Neuromuscular

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Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info

REVISIONS: 1996-2024

January 2023
COXPD57
DA5E
ELOVL4
Hirayama
Lgi4 antibodies
SCAR33
Snake venoms
SPG2
YARS1
February 2023
CMH29
LGMD
  DTNA
  HMGCR
Serine
SPG: SPTSSA
Spindles
TEFM
March 2023
Congenital myopathy
MC4DN23
PN: NOTCH2NLC

April 2023
Cryptococcus
DNAJB2
Motor PN: BANF1
Myopathy
  HADDTS
  TDP-43
May 2023
AMC
  FARAD
  FILIP1
DNMT3A
MC5DN4A
MC5DN7
MRI: Muscle
SCA: THAP11
SPG89: AMFR
July 2023
CMT2: DHX9
Myopathy: MAMDC2
Spastic-Ataxia: RINT1

Aug 2023
ATP1A3: SPG + ID
CCDDRD
CMT2
VCP
Sep 2023
CMT 2DD
Dystrophin: Carrier
HFMH
Itch
Miller-Fisher

Nov 2023
Giant Cell Myositis
OPA
Dec 2023
COXPD59
DHTKD1
PEO: B6
SCA4
Snake venoms
ALS: SPTLC2
Jan 2024
DAG1
MAHCC
NBIA9
CMT: RAB40B
SPAX10
Feb 2024
Axons vs SC/Myelin
MDRP
Myopathy
  JPH1
  SNUPN
Radiation
Strachan syndrome
Feb 2021
4H synd: POLR3K
DNAJB6
Joubert 37
Rod myop: ACTA1

Mar 2021
Compartment synd
DNM1L
GMPPA
NDUFA12
NEDHCA
Sens NP: COX20

Apr 2021
α-DG glycosylation
Central core
MNGIE: LIG3
Myopathy: JAG2
May 2021
c2orf69
Chikungunya
CMT2: CADM3
COX16
Distal myop: SMPX
Goldberg-Shprintzen
HLD: RNF220
MSP: ANXA11
PCH

June 2021
ALS
  Child: SPTLC1
  HTT
Child neuropathy +
  DCIDP
  GAN1
  PSATD
COXPD52
Leukoencephalopathy
  HMBS
NSVN
PD1 antibody
Systemic Sclerosis
  Myovasculopathies
July 2021
ATP1A1
CMT 4H
FUS
MG: Trans neonatal
Myopathic tremor
Myopathy proteins
SCAR31

August 2021
ALS: Respiratory
POIKTMP
RYR3
SMA 5q
VLCAD

September 2021
ADPRHL2
CCHS
DNA2
Lgi1 antibody
LHN - N/S HNST
MELAS
mtDNA
PCH16
PNPLA2
POLRMT
RYR1: Hypotonia
October 2021
Autophagy
B4GALNT1
CABAC
Cachexia
CCPD
CMT 2GG
Complement
Cores
Gene Panels
HINT1
HSAN9
Joubert 40
LGMD R17
LHON
MAG PN
Mast cells
  TPSAB1
Matrin-3
MLIP
MYHM
NEDLAS
NSVN
NXP-2
PN: NOTCH2NLC
SCA8
SOX10
November 2021
Mito: IMMT
MPD3
MYH
N2O
PRDM13
SCO2
SPG84

December 2021
ALS: SOD1
Rods: CAP2
MASNS
Sarcoid
SETX

January 2022
ANO5
ATP5MC3
CEDNIK
FKRP
GFPT1
IPEX
KANK1: ALS
NEFH
RDH11
RPIA
SLC25A26
YOBELN: OGDHL
Febuary 2022
CMT1I
COXPD54
DADA2
ERBB4
NrCAM
SPG86

March 2022
ENDOG
MDA5
NPTX1
OPDM4
TAMM41
TRMT5

April 2022
ALS19
CMT1I
IDDPN
SCA25

May 2022
ALS: ATXN2
Gene panels
HMSN: NRG1
OPMD: HNRNPA2B1
PCH12
SCAR32
June 2022
COMNB
Pain insensitivity

July 2022
ALS: RNF13

August 2022
MORC2
Myokymia
  KCNQ2
  Lgi3
Tif1γ
Wallerian degen

September 2022
ALS: FUS
Ataxia: CAPRIN1
CMT-DI: SARS1
Congen myopathy
Demyelination
  Macrophage-med
EHBP1L1
GSD9D
LETM1
MTTL1
PM-Scl Ab
PSAT1
RFC1
October 2022
ALS: PFN1
AR-CMT2: MYO9B
CMT 2II
Endoneurial microvessels
Histiocytes
KIF1A
Myopathy: DNAJB4
NARS2
Nemaline rods
Z-line: Disorders

November 2022
BACM
COXPD56
CRDs
dHMN1
HUMOP2
MC1DN39
MC3DN11
MFF
Muscle fiber necrosis
SPG88
SPTAN1
April 2020
AIFM1
Amyloid AL
Cong MG: CHD8
COVID-19
COXPD: 40; 41; 42
DβH deficiency
EGR2
Erdheim-Chester
FIG4
GNE
HARS1
KCNA1
SCA48
SLC25A
Wieacker-Wolff
May 2020
Amyloid: TTR
APOO
AR-CMT: SORD
CLCN1
COXPD44
FOSMN
Head Deviation
Membrane repair
Myopathy
  GGPS1
  HNRNPDL
NEDHCAS
OPDM2
PYGM
  Myopathy, Dominant
SCN
TACO1
TOMM70
June 2020
CMS: CHRNB1, Fast-chan
Distal Myopathy: PLIN4
Finger flexion
FSHD: LRIF1
HSF1 antibody
Oxaliplatin PN
PMP-22 syndromes
  HNPP
PNPLA2
Sensory Ataxia

July 2020
ACOX1
ALS: LRP10; UNC13A
Arthrogryposis
  MYLPF
Botulinum toxin
COXPD
CTS, Familial
DMD: Rx
MORC2
Rods: ADSSL1
Aug 2020
Antibody: TRIM72
Arthrogryposis: AMC5
ATP13A2
CMT
  IB
  Dystonin
  MTTV
  SAMD9L
Cong MG: SYT2
Dermatomyopathies
  Immune
Diaphragm: MYODRIF
Lipid droplet-ER contact
MDDGB15
Mitochondrial: GFER
Mitochondrial pathology
  ETFDH
  MELAS
  MNGIE
NARS1
Pregnancy
SCA19
SEPN1
Tyrosinemia
Wallerian Degeneration
Sept 2020
ALS: Juvenile
CMT1: ITPR3
CMT2/dHMN: GBF1
COQ5
Covid-19: Focal PN
COXPD48
Demyelinating PN
  CIDP associations
  MAG
Mitochondrial
  Complex I
  Lethal neonatal
RFC1
SMGMQTL
Systemic sclerosis
Oct 2020
ALG14
Caspr2
COXPD51
IMPP: Enterovirus
MFM10: SVIL
Mitochondria
  Complex disorders
Morvan
mtRNAGln (MTTQ)
SPG83

Nov 2020
ALS-FTD: HTT
MDA5 Ab
MME
NEMF
OPDM+
UQCRC1
Dec 2020
CFTD: HACD1
CMG: MACF1
GBS: Prodrome
ICI Myopathy
Mitoribosomes
NEDCASB
Neuropathy: HIEM
OPDM2
Rod myopathy: Nebulin
SMAX2
VCP

Jan 2021
CIPO
CMT2A2
DNM1L
Hirschsprung
LHON, Recessive
MC1DN36: NDUFC2
Motor PN + Myopathy
Mucolipidosis IV
SDHA
SDHD
TRMU
VCPDM
August 2019
Checkpoint Inhibitors
PIP phosphatase

September 2019
ADCK2
Axon transport
MTDPS17
Myonuclei
SSBP1
TTR amyloid
October 2019
ALS: GLT8D1
Congenital
  MG: AChR α1
  Weakness
Dermatomyopathies
LGMD: POPDC3
Myonecrosis
NPL: Myopathy
PCH13
PN: Amphiphysin Ab
SPG
  PCYT2
  RNF170
November 2019
ALS
  DNAJC7
  PNL
CACNA1H
CMT2B2
FXR1
HSAN2B
hypoPP: ATP1A2
IIM: Zo Ab
Mitochondria
  Encephalopathy: TIMM22
  Myopathy: COX6A2
December 2019
Antibody: CNS
Congenital myopathy
  UNC45B
Mitochondria
  ATP5MD

January 2020
Ataxia
  CHEGDD
  NEDAHM
LGMD: POGLUT1
Mitochondrial
  UQCRFS1
NMOAS
Sweating
February 2020
ALS
  CHCHD10
  ERLIN2
Brody
Chaperones
CIDP: Nf155 Ab
CMT
  CMT2 + Vocal cord: JAG1
  CMT-DI: EBP50
  TFG
CRYAB
DA2B
Joubert
Muscle MRI
Small fiber PN
Target fibers
TOR1AIP1
March 2020
ALS-FTD: CYLD
ATAD3A
EA9
FLNC
GRID2
HHH
PRAAS1
Waardenburg
April 2018
ALS treatment
  Cramps
  Edaravone
  Gastrostomy
  Riluzole
Mitochondria
  MELAS Rx
  SCAN3
May 2018
Ataxia-Neuropathy
  SCAN3
Spinal motor neuropathy
  EXOSC9
  RBM7

June 2018
Sarcopenia

July 2018
LGD1A: Muscle
Pain: Plexin D1
September 2018
Congen Myopathy: MYL1
NF-155 Ab, IgM
PEOB5

November 2018
Ataxia, Dominant
  SCA48
Ataxia, Recessive
  CONDSIAS

January 2019
CONDCA
Dusty cores

February 2019
COXPD37
PERRB

March 2019
ACTN2 myopathies
CANVAS
Lymphoma
  Neurolymphomatosis
Myoglobinopathy
NEDCPMD
Pain: Insensitive
PMM2-CDG
April 2019
CMT 2EE
COXPD39
Myopathy + Tremor

May 2019
ADOAC
CPT2
HANAC
LHIM
NMNAT2
PAX7
SPG80
June 2019
CMT1: c1orf194
KARS
Paraganglioma

July 2019
HMN: SPTAN1
HMSN: PDXK
NIID
OPDM1
OPML
SH3TC2: Cerebellar
SOD1 deficiency
April 2017
GAD65 antibodies
Myopathy: P4HA1
Myopathology
  DM + TIF1-γ Ab
Neurofilaments
PCH7
Schwannoma

May 2017
ALS: ANXA11
June 2017
AR-CMT2: MCM3AP
Congenital myopathy
  SPTBN4
Neurofascin Ab
Spastic-Ataxia: NKX6-2

July 2017
Carey-Fineman-Ziter
MG: MuSK
Muscle MRI
Myopathy: MSTO1
SCA37
August 2017
ALS: TIA1
Mitoribosomes
  MRPS34

September 2017
Mitochondria
  C1QBP
PN: Cold

October 2017
GAMOS
November 2017
SCA45
SCA46

December 2017
Arthrogryposis: UNC50
Pain insensitivity: ZFHX2
January 2018
ALS
  c9orf72
  KIF5A
Ataxia, Recessive
CMT: SCO2
Congenital MG: LAMA5
Encephaloneuronopathy
DNA Repeat disorders
Mitochondria: MIEF2
February 2018
ALS: ERLIN1
Ataxia + Motor PN: CHP1
Mitochondria: NDUFB8
Myopathy: Titin

March 2018
CMT2: ATP1A1
Mitochondria
  ATP5F1D
  MRPS2
  PMPCB
  VPS13D
Rods: RYR3
May 2016
Duane: MAFB
FSHD: DNMT3B
Muscle MRI
Pathology
  PGAM2
  SRP
SPG 76

June 2016
CMS: MYO9A
LGMD 1: CAPN3
MADD: FLAD1
Myocerebellar
July 2016
Exercise intolerance
  TMEM126B

August 2016
MG, Congenital: CHT
Mitochondria
  Cardiomyopathy
Contractures + Weakness
  KY
Neurodegeneration: p62
Neuropathy: Levodopa
PCH: SLC25A46
SCA43
SPG: KCNA2
September 2016
CMG: Munc13-1
CMT2, Dominant: MME
LCCS: GLDN
Mitochondria
  ATAD3A
  NAXE
  SLC25A4

October 2016
CMG: SLC18A3
HSAN: PIEZO2

November 2016
Congen myopathy: ZAK
LGMD: POGLUT1

December 2016
Amyloid: Other
CIDP: Sensory
Congenital myopathy
  CACNA1S
Mitochondria
  COXPD31
  MDH2
  MGCA
Myositis: Orbital
Rod myopathy: MYPN
January 2017
Antibodies
  Neurofascin
  Neuromusclar
  NXP-2
Itch: COL6A5
Mitochondria: OPA11
Pathology: Perineurioma
PN: Episodic, Hereditary
SPG: EPT1
February 2017
Congenital
  MD: INPP5K
  Myopathy: TRDN
Mitochondria: TRAK1
SPG: 23; 79

March 2017
Arthrogryposis: LGI4
dHMN: WARS
HSN + Deafness-Dystonia
Mitochondria
  Encephalopathy
Renaut bodies
October 2015
CMT: MORC2
Cough
Distal myopathy: ADSSL1
Encephalomyopathy
  SLC25A26
Joubert
Leigh
Necrosis
SCA: CACNA1G
SMARD: REEP1
November 2015
CMS 19
Cylindrical spirals
HMSN
  ARCMT2: SPG11
  ARCMT2: PNKP
  Hepato-Cerebellar: SCYL1
IIM: FHL1 antibody
Mitochondrial carriers
  SLC25A42
PLS
Sudden death
December 2015
CMT 2Z
Congenital myopathy
  SCN4A
Mitochondria
  COX8A
  PITRM1

January 2016
AIN: Face diplegia
CMT2: DGAT2
Encephalocardiomyopathy
  TANGO2
February 2016
ARCA: UBA5
CIDP: Neurofascin Ab
Mitochondria
  COXPD29
Pathology
  AIN
  Centronuclear: MTM1
  Necrosis
  Phophorylase
Scapular winging: CHD7
March 2016
AR-CMT2T
SMABF

April 2016
ALS-FTD: CCNF
CMT2: NEFH
Mitochondria: TRMT10C
Jan 2015
Acute flaccid myelitis
CODAS
MG: AChR inactivation
Mitochondria
  CLPB
  3-MGA

Feb 2015
AOA4
FGFR3 antibody
HSAN 1E: DNMT1
LGMD 2T: GMPPB
Mitochondria
  CLPB
  COQ4
Vincristine neuropathy
Mar 2015
Ataxia: PMPCA
Congential MD
  α-DG
  Dysferlin
  ISPD
Congential MG
  Differential diagnosis
  SLC25A1
HSN: NAGLU
Joint hypermobility
SPG 73
Apr 2015
Acute flaccid myelitis
Camptocormia
MG: Congenital
  Classification
Mitochondrial
  NDUFA13

May 2015
ACTA1 myopathies
Arthrogryposis: GPR126
Centronuclear myopathies
Mitochondrial
  COA3
SPG 56A
SRP myopathy
June 2015
Demyelinating PN
  CNTN1 antibodies
HMSN: HARS
Insensitivity to pain
  CLTCL1
  PRDM12
Lymphoma
PCH
PEO + CNS: RNASEH1
SPG: ALDH18A1
July 2015
Distal Myopathy
  DNAJB6
  SQSTM1
Optic atrophy
  HMSN

September 2015
ALS: FUS
Klippel-Feil 4
OPMD
SPOAN
Aug 2014
Ataxia
  Cerebellar cysts
  DNA repair Δ
    ATLD2
Cap myopathy
  Nebulin
Centronuclear myopathy
  Dilated cardiomyopathy
CMT 2: COX6A1
Mitochondrial
  IARS2
  Leigh-like
  Leukodystrophy
  Leukoencephalopathy
    AARS2
MPD2: MRI
Polyglucosan bodies
Toxic neuropathy
  Paclitaxel

Sep 2014
Child neuropathy: NGLY1
Congenital myopathy
  Centronuclear: BIN1
  Rod: LMOD3
LEMS: Congenital

Oct 2014
AR-CMT2
  HSJ1
  IGHMBP2
Dengue
Episodic ataxia: EA8
Perrault: Twinkle
Nov 2014
Acid maltase
ALS: TUBA4A
HMSN: DNAJC3
Ixabepilone
MDDGC12
MG, congenital: SNAP25b
Mitochondrial AARS
  NARS2
Rod myopathy, adult
Toxoplasmosis
Dec 2014
Aging: Muscle
ANOAC
Ataxia
  HLD9
  SCAR17
  SNX14
Immune myopathy
  RIIM: Pathology
  BCIM: Pathology
Mitochondrial
  ISCA2
  GTPBP3
  mtRNA
  UQCC3
Trichinellosis
  Pathology
January 2014
CAPOS
Diethylene glycol
Enterovirus 71
Fe/S cluster disorders
  LYRM4
HSAN: ATL3
Leigh syndrome: PET100
MG: LRP4 Ab
Myopathy: Collagen XII
SPG: REEP2

February 2014
SPG 56 - 72
March 2014
Ataxia, recessive: TDP2
HMSN2 + Giant Axons
LGMD 1G
Myosin loss myopathy
Neurofascin antibody

April 2014
ALS: Matrin-3
Arthrogryposis
CANVAS
Centronuclear myopathy
  Pathology
Meralgia paresthetica
SCA: Dominant
SPG 21
May 2014
ARS syndromes
  Mitochondrial
Motor neuron: MAPT
Visceral myopathy

June 2014
ALS-FTD
  CHCHD10
  UNC13A
Athletics: Genetics
Mitochondrial
  Encephalopathy: LYRM7
Myotilin myopathies
Ponto-Cerebellar Hypoplasia
RyR1 syndromes
  Fatigable weakness
Spondylotic myelopathy
July 2014
CANVAS
Dermatomyositis
  Calcinosis
HMSN5
LCCS6
OPLL
Perineurioma
  Pathology
SCA: 21; 34; 38; 40
SMA + Cerebellar
  EXOSC8
September 2013
Achalasia-Alacrimia
Hereditary neuropathy
  Differential Diagnosis
  Molecules
  Pain, Congenital absence
  Pathology DDx
  SURF1
Muscle pathology
  IBM
  Kearns-Sayre Syndrome
Nerve pathology
  CIDP: Subacute onset
  Wallerian degeneration
October 2013
ALS: ErbB4
COX10
Muscle pathology
  VCP
Pain, episodic
SMA: Calf predominant
Weakness: Episodic

November 2013
Congenital MG: LRP4
Ehlers-Danlos: EDSMC2
Ipilimumab
Mitochondrial
  Anemia
  Myoglobinuria
Prion: Neuropathy
December 2013
Arthrogryposis
  Neurogenic
Ataxia
  AVED
  Hypogonadism: PNPLA6
  Joubert: CSPP1
  SCAR12
Becker MD: Pathology
LGMD 1A: Pathology
Mitochondrial
  Myopathy + Movement
  NBIA
Polio
Pregnancy
June 2013
CMT 4B3
Myopathy
  Ehlers-Danlos
  Native American
Nemaline rod: KLHL40
SPG 26
July 2013
IOSCA
Myopathy + Movement
Oxaliplatin
Polyglucosan
  Myopathy
August 2013
CFTD: HACD1
CMTRIC
CNM: TTN
Mitochondria
  Hyperglycemia: CYC1
  Encephalopathy: FBXL4
SPG, Early onset: EXOSC3
March 2013
Congenital MD
  B3GALNT2
Myopathy + Paget
  HNRNPA1
  HNRNPA2B1
April 2013
ALS: Han Chinese
AR-CMT2: TRIM2
Ataxia: AOA
LGMD 1F
Mitochondrial
  ATP5A1
  CEP89
  UQCRC2 (MC3DN5)
WWS: SGK196
May 2013
Arthrogryposis: ZC4H2
Ataxia: Hypogonadism
SMA: Early-onset, Dominant
SPG: DARS
Walker-Warburg: B3GNT1
November 2012
CIDP: Antibodies
CMT 2
  BSCL2
  DHTKD1
FSHD2
HMN 7A
SPG
  49
  49A
  53
  54
  55
December 2012
COXPD14
Vici syndrome
Welander distal myopathy

January 2013
B12 deficiency
CMTX6
HNPP
LGMD: ISPD
Mitochondria
  Cardiomyopathy: MRPL44
  PEO + Myopathy
    DNA2
    MGME1
Tubular aggregates
  Proximal myopathy
February 2013
ALS-FTLD: c9orf72
CMT-DIF: GNB4; 3q26
Congenital myopathy
  MYL2
Demyelinating neuropathy
  Acquired
    Motor polyradiculopathy
    Sensory polyradiculopathy
FSH: Infantile
IgG4
Immune myopathy
  Antibodies
    EJ
    MDA5
    PL7
    PL12
Myasthenia, Familial
  ALG2
  ALG14
June 2012
Amyloid neuropathy
  β2-Microglobulin
Brown-Vialetto-van Laere
HIBM 4
HMN 5C
Mechanotransduction
Monomelic amyotrophy
SMA + Myoclonic epilepsy
Small fiber neuropathies

July 2012
ALS: PFN1
Congenital
  Facial paresis: HOXB1
  Myopathy: CCDC78
Congenital MG
  Tubular aggregates
SCA: 19; 22
August 2012
ALS modifiers
  EPHA4
  UNC13A
Ataxia
  ARCA
  CAMRQ
  CANPMR
  Cortical Myoclonus
CMT: MT-ATP6
Fiber types
  CFTD
  Properties
HMSN-P
Myokymia
  Facial + Dyskinesia
Periodic paralysis
  Hypokalemic, Chinese
Pregnancy
SAE antibody
September 2012
AR-CMT2 + Neuromyotonia
Joubert 18
MDDGA8
Mitochondria
  Encephaloneuromyopathy
SPAX1
Trichinellosis

October 2012
CMT 4F
Mitochondria
  mtDNA: Multiple deletions
    DGUOK
  PNPT1
Myasthenia Gravis
  Muscle pathology
PCH + Microcephaly
Spastic Ataxias
Jan 2012
Antibodies
  Juvenile DM
  PM-Scl
  Scleroderma
Ehlers-Danlos
HMSN
  EGR2
  MPZ
HSAN 6
Hyperhidrosis
Joubert syndrome
  Type 15A
Mitochondria
  c12orf62
  Leigh
  NDUFA12
  NDUFB9
  Sengers syndrome
SPG 12
Feb 2012
ADCA-DN
SPG 22

Mar 2012
ACO2
ALS: EWSR1
ARS syndromes
  Portneuf spastic ataxia
CANVAS
Ehlers-Danlos
Mitochondria
  L2HGDH
  Proteins
Multicore
  MEGF10
SMA-LED
SPG 47
Apr 2012
Distal myopathies
Iron
Mitochondria
  EARS2
PoTS
Walker-Warburg: ISPD

May 2012
ALS: TDP-43
Cytoplasmic body
  Early Respiratory Δ
IM: Mitochondrial antibody
Mitochondria
  MTO1
PCH + SMA
Oct 2011
AMAN
Chagas
CPT II
Dermatomyositis
  p155/p140 antibody
  MDA5 antibody
HMN, Distal
Iron
LGMD 1D
Mitochondrial
  Alpers
  Combined complex Δ
    Encephalopathy, NFU1
    Encephalopathy, BOLA3
  MPAN
Myasthenia
  MuSK
  NMJ molecules
Sensory neuropathy: Acute
Nov 2011
ALS
  SQSTM1
  TAF15
Ataxia: AOA3
Arthrogryposis
Coenzyme Q10 deficiency
Distal SMA 5
EMARDD
FKRP: Pathology
Jo-1 & Ro52 antibodies
LGMD 1E
SCA 31
Dec 2011
Absent muscles
  Abdomen
Axon transport
DM1
Joubert syndrome
Mitochondrial disorders
  LIAS
  TPK1
Muscle pathology
  BCIM
  LGMD 1E
Myhre syndrome
Neuropathy
  TS-HDS antibody
June 2011
CMD
  Mitochondrial Pathology
Myasthenia: MuSK
SCA 36

July 2011
CMT: Differential diagnosis
Coenzyme Q10 deficiency
Mitochondria
  Complex 1 deficiency
  Infant & Childhood
SMA + Cramps
Spasticity
Striational antibodies
Aug 2011
ALS
  SIGMAR-1
  TDP-43
  UBQLN2
ARCA
  + Retardation: SYT14
CMT2: DYNC1H1
Corticosteroid treatment
  Intermittent dosing
HSMN + Ulcero-mutilation
  ATSV
  DDx
Joubert syndromes
SPG 18
SPG 30
SPG 47
Sep 2011
ALS-FTD 2
Ataxia: TACH
MNGIE
Pain: HCN2 channels
Tomaculae
Jan 2011
HSN
Lipid disorders
Mitochondrial
  HUPRA
  TTC19
Phone Homepage
Vasculitis
  MPA
  Wegener's

Feb 2011
Familial Myasthenia
  Tubular aggregates
Mar 2011
Immune myopathies
LGD + Retardation

Apr 2011
AR-CMT2
Cardiomyopathy
  Hypertrophic
Distal weakness
Microscopic polyangiitis
Mitochondrial
  Cardiomyopathy
  MSCAE
May 2011
ALS: Optineurin
Ataxia: Myoclonus Epilepsy
Cardiomyopathy: AARS2
Filamin C: Distal myopathy
Fibulin-5: CMT & DHMN
FSP
  CPSQ
  Retardation
HSN
  Hearing loss & Dementia
Periodic Paralysis
  Thyrotoxic
Small fiber PN: SCN9A
Aug 2010
Ataxia
  PEX10
FALS
  FUS
  Juvenile, Basophilic inclusions
FSH: DNA mechanisms
K+ channel antibodies
MMN
  Antibodies
  Treatment
PHARC
SMA-LED

Sep 2010
Daptomycin
Mitochondria
  c20orf7
  FOXRED1
  NUBPL
Refsum
SPG 48
TACH
Oct 2010
Cardiomyopathy
  Hypertrophic
CMT: KARS
Fatigue: ACAD9
FSH
GM1 antibodies
HSAN
  I
  V
  Diarrhea
McArdle
Myopathies: Thigh MRI
SCA 23
Spastic ataxia: MTPAP
SPG: Mitochondrial
Surfing
Nov 2010
α-Dystroglycan disorders
Age & Muscle
Ataxia: ANO10
Emery-Dreifuss: TMEM43
FOSMN
LGMD: Plectin
Lipid Disorders
MG: LRP4 antibodies
Mitochondria: SUCLG1
PCARP
Pelizaeus-Merzbacher–Like
Rod myopathy: KBTBD13
SCA: TGM6
Selenoprotein deficiency
SNAX1

Dec 2010
DMD
  Dystrophin: Point mutations
  SPP1 polymorphism
FALS: VCP
LGMD 2L
Mitochondria: NDUFA10
SPG: SPG39
January 2010
Distal arthrogryposis
  MYBPC1
  DA2B
LGMD
  1H
  2L
SPG 35


February 2010
ALS5
CFEOM3
HMN 2C
Periodic paralysis
  Thyrotoxic
SMAX3
SPG 43
March 2010
Brown-Vialetto-van Laere
Cap myopathy
cis-platinum
CMT 4C
Lipodystrophy: CGL4
Rippling muscle
RyR
SCA 28

April 2010
ALS, Hereditary
  CHMP2B
  DAO
  OPTN
CIDP: Acute onset
FSH: Genetics
Glycogenin deficiency
Hemochromatosis
Mitochondria
  Encephalomyopathy: AIFM1
Multiple Epiphyseal Dysplasia
May 2010
Diabetic neuropathy
  Treatment induced
Immune myopathy
  200/100 antibody
Myopathy + Ophthalmoplegia

June 2010
CAMOS
Clevudine
Distal
  Myopathy
  Weakness, early onset
Mitochondrial
  ATP5E
  RANBP2

July 2010
Hexagonal inclusions
Mitochondria
  c12orf65
  MLASA
  mtDNA depletion
POEMS
SPG 46
July 2009
ALS: Spinal cord
Ataxias
  Ataxia-Telangectasia
  PCH1 + SMA
  SCA 9
  Thermoanalgesia
Congenital MG
  Agrin
  Rapsyn
Myopathy: DPM3
Myosin loss: Pathology
Myositis: BCIM pathology
PGM1 deficiency
August 2009
Ataxia
  Dandy-Walker
  DRPLA
  SCA 2
  SCA 28
Bortezomib
Cold allodynia
FHL1 syndromes
  Emery-Dreifuss
GBS
  Variant: Facial diplegia
IBMPFD
Immune myopathy
  Dermatomyositis
    vs IMPP
    Pathology
  IMPP
Mitochondria
  AD-PEO: RRM2B
  Ataxias
  Complex III
Myasthenia gravis: Ocular
Myopathy + Lipodystrophy
SMA: SMN2 gene
Spinal cord
  CP, Spastic quadriplegic
  HSN + Spastic paraparesis
Toxic myopathy
  Statins
September 2009
ALS: Susceptibility
Mitochondria: Reversible
  Hepatic failure
  Myopathy
  Paragangliomas
  SANDO

October 2009
HSAN 2B
Joubert syndromes
  X-linked
PGK
SCA 31

November 2009
ALS
  PMA
  Smoking
Myasthenia gravis
  Ocular

December 2009
Angiotropic lymphoma
CMT
  2C
  2M
Porcine aerosolized brain

January 2009
ALS: FIG4
CMT
  2A2
  Pathology
Lipodystrophy

February 2009
ALS 6
Ataxia + Epilepsy
CMT 4H
Reducing body myopathies

March 2009
ALS
  Childhood, Recessive
  SOD1
Ataxia
  Friedreich
  SeSAME
Cardiomyopathy
  LVNC
CMT: AR-CMT 2B
Congenital Myasthenia
  Laminin β2
CPT2 deficiency
MNGIE
April 2009
CoQ10 deficiency
  COQ9
Distal SMA (HMN)
  DSMA 1
IBMPFTD
Mitochondria
  Myopathy + Cataracts
  Optic neuropathy
  Pancreas
  Twinkle
Myositis
  DM pathology
  U3-RNP antibodies
Nuclear protein disorders
  MPD2
SMNA
SPG 36
Syringomyelia
XMEA
May 2009
ALS-FTD2
AR-CMT
  Severe, Early onset
Ataxia, congenital
  Quadrupedal locomotion
Congenital weakness
Diaphragm weakness
Mitochondria
  Complex I
  Lethal encephalopathy
  Leukoencephalopathy
  LHON + Dystonia
  Proteins
SPG45


June 2009
HMSNR
IBM: Pathology
Leigh syndrome: TACO1
SPG 18
Vitamin D deficiency
October 2008
CMT 2F
Joubert 9
Mitochondria
  Complex V
  Encephalopathy: C20orf72
  Encephalocardiomyopathy
Myosclerosis
Native American Myopathy
Rhabdomyolysis
  Childhood Recurrent
SPG 10

November 2008
Ataxia
  Myoclonus epilepsy Ataxia
  PCH
  SCA 30
Bell's palsy
Lethal congenital myopathy
Nuclear envelope: Disorders
Refsum-like
SPG + Dystonia
December 2008
Club foot
COACH syndrome
DUX4 protein
Leukodystrophy
  HLD2
  HLD6
  HLD7
  Spasticity & Dystonia
SPG 42
June 2008
Cardiomyopathy
  Dilated
  Hypertrophic
Dynamin 2
  Centronuclear myopathy
  CMT 2
HSN2
Mitochondrial
  C6ORF66
  Complex I
  COX6B1
  DLD
  Hypomyelination: HSP60
  NDUFA2
  NDUFAF1
  NDUFV2
Pathology
  Fukuyama
  Marinesco-Sjögren
SPG13
SPG34
SPG37
SPG38
July 2008
AAA syndrome
ALS
Anhidrosis
CMT 2K
Cockayne: A; B
Complex repetitive discharge
Dermatomyositis
Duane: DURS2
FXTAS
Mitochondrial
  C8orf38
  SANDO
Median nerve
Myasthenia gravis
  Clinical
  Dok-7
  RyR1 antibodies
Radial nerve
Aug 2008
Ataxia & Microcephaly
  CASK
  EOMES
Carnitine
Nerves
  Arm
  Leg
PCH

September 2008
Mitochondria
  Encephalopathy: FASTKD2

February 2008
Cramps
  HANAC
  Satoyoshi syndrome
Exercise intolerance
  ISCU
Long QT
POLG: MSCAE
SPG 10
New web address
http://neuromuscular.wustl.edu

March 2008
ARVD5
Ataxia: CABC1
CFTD: TPM3
F-ALS: TDP-43
Mitochondria
  Encephalopathy: NDUFA11
SPG 39

April 2008
Episodic ataxias
MELAS
May 2008
ALS: SOD1
ANE syndrome
Centronuclear myopathy
Hepatitis C
Mitochondria
  Complex III
  Encephalopathy: UQCRQ
Polyarteritis nodosa
SCA15
SCAR9
SPG35
October 2007
Calcinosis
Centromere antibodies
Dermatomyositis
  Birth patterns
  Antibodies
    CADM-140
    p155
Glycogen storage disease 0
Mitochondrial
  ATP synthase 8
  Cardiomyopathy
  Complex V
Neuronopathy
  Small fiber sensory
Pain
  Chemical
  MCP-1
  TRPA1 channels
SCA 17
SPG 11
SPG 20
November 2007
Dermatomyositis
Leprosy
PLS
SCA 11

December 2007
AMAN
ITP
Lamin A/C
LGMD 2A
SCA17
TNF-α
January 2008
ALS: Epidemiology
Contractures
  Lethal congenital
McArdle
Mitochondria
  COXPD1
  COXPD2
  COXPD4
  COXPD5
  OPA1
  Respiratory disorders
    Combined
Proteasome: Disorders
Scapuloperoneal myopathy
SMA: Infantile
SPG 5
Titin disorders
July 2007
ALS-Western Pacific
CMTX5
Itch
Lethal congenital contracture
Mitochondrial: Parkinsonism
Pontocerebellar hypoplasia
August 2007
Centronuclear myopathy
  Recessive: BIN1
CMT: EGR2
Colchicine
FSH dystrophy
September 2007
Dilated cardiomyopathy
Emery-Dreifuss MD
  EMD3
  EMD4
West Nile
Apr 2007
CMT 4H
Coenzyme Q10 deficiency
Congenital MG: Dok-7
Inflammatory myopathies
  Dermatomyositis: Pathology
  Neoplasm associated
  Sarcoid
  tRNA Synthetase antibodies
Kaeser syndrome
Lipid storage: Pathology
Spastic ataxias
  LBSL
May 2007
Ataxia, recessive
  Epilepsy & Retardation
Diethylene glycol
LMN syndrome
Mitochondria
  Encephalopathy: DNM1L
  mtDNA depletion
    SUCLG1
    RRM2B
SCA 15
SCA 16
SPG 32
June 2007
Autophagy
CMT 4J
Joubert syndrome
Lactate metabolism
Jan 2007
Bortezomib
Central core: Pathology
CMT 2E
Distal arthrogryposis
  DA10
Hearing loss
Joubert syndromes: Type 6
LGMD 1C: Variants
LGMD 11p13
Myopathy
  Asymmetric
  Quadriceps
Myositis: OJ antibody
Feb 2007
Copper deficiency
FSH dystrophy: Mutations
Mitochondrial encephalopathy
  Alexander disease
  Complex IV
  MERRF
  NDUFA1
  SUCLA2
Spastic paraparesis: SPG 11
Mar 2007
CMT
  AR-CMT2A
  CMT 1X
  CMT 2K
Coenzyme Q10 deficiency
  PDSS1
Crisponi syndrome
Cytoplasmic bodies
Emery-Dreifuss MD 2
HMN, Distal
Lipodystrophy
Markesbery myopathy
Pitt-Hopkins
Spastic ataxia: SAX2
Sweating: Cold-induced
Sep 2006
AD leukodystrophy
Autophagic vacuoles
Mitochondria
  Combined deficiencies
  EFTs
  MIDAS syndrome
  MRPS16
OPLL
Dec 2006
Ataxia, Recessive
CMT X3
Dysferlin protein
Dystrophin mutations
Fabry disease
FOSMN
FSH dystrophy
Heroin toxicity
HNPP
Lead neuropathy
Metabolic syndrome
MGUS
Mitochondrial cardiomyopathy
  ATP synthase deficiency
  Nuclear gene mutations
  Phosphate carrier deficiency
Myasthenia gravis
  Telithromycin exacerbation
NARP
Nemaline rod myopathy
Neuropathy: Arms
Neutral lipid storage
OAT deficiency
Pain
  Inability to experience
  Paroxysmal Extreme
Sarcoid: Neuropathies
Sensory ataxia, Dominant
SPG8
Triglycerides
Tuberculosis
Vasculitis: Treatment
Oct 2006
Coenzyme Q10 deficiency
  COQ2
  PDSS2
Fukutin
  Cardiomyopathy
  LGMD 2L
Hypomyelination & Cataract
Mitochondrial
  Cardiomyopathy
Rod myopathy: Cofilin-2
July 2006
ALS ± FTD
Ataxia
  Ataxia telangectasia
  Congenital, X-linked
    CASM
  Joubert syndromes
Central core & MHS
Centronuclear myopathy
  DNM2 mutations
CMT: Axonal, MPZ mutations
Danon disease
HSN + Deafness
Immune myopathies
  Pathological features
Motor neuron syndromes
  Distal: Ataxia telangectasia
  Lower motor neuron
Myosin disorders
Navajo neurohepatopathy
Proton pump inhibitors
Aug 2006
Dimethylamine Borane
Familial MG
  Arthrogryposis
  Limb-Girdle (Dok-7)
  Rapsyn
  AChR, δ-subunit
Myositis: Lyme
Vibration syndrome
May 2006
Inflammatory myopathy
  Brachio-Cervical
Clinical trials
LGMD: 2A; 2B
Miyoshi myopathy
PEO
  POLG1
  POLG2 (A4)
Sjögren syndrome
  Polyneuropathy
SPG31
Spinal AVM
June 2006
Congenital MD: Joint laxity
Lipodystrophy: Acquired
Multiple pterygium syndrome
SPG33

March 2006
African tick bite
DM1: MRI
Glycogenoses
Myositis: HLA associations
April 2006
Ataxia + Cough
CFEOM
  Bosley-Salih-Alorainey
CFTD
  X-linked
HSAN
Mitochondrial encephalopathy
  Hepatocerebral syndrome
Node of Ranvier
Renal failure
SCA 13

January 2006
DI-CMT 2C
Erythermalgia
HMSN VI
Pathology
  Ullrich CMD
SCA5

February 2006
ALS
  ALS-ANG
  ALS-FTD 2
  SOD1 mutations
CMT: P0 mutations
IBMPFD
Methotrexate
SPG 30
November 2005
AMAN
Bethlem myopathy
Distal myopathy
  Markesbery
  Nebulin
  ZASP
Marinesco-Sjögren
Mitochondria
  COX II
  COX III
  Vanishing WM
  Optic atrophy
Oculopharyngeal MD
Ullrich CMD
December 2005
Harlequin syndrome
HSN + Spastic paraparesis
NIID
Pathology
  ALS: Muscle
  Emery-Dreifuss MD
  Exercise
  Granulomatous myopathy
  Reducing body myopathy
SPG7
SPG29
September 2005
Cerebellar ataxia
  IOSCA
  VLDLR-associated hypoplasia
Brachial plexopathy: HNA1
HTLV-1
Rod myopathy, Adult
Thymus hyperplasia
October 2005
Centronuclear myopathy
  Dominant
CMT 1D
Myopathy + Bone fragility
Phosphorylase kinase
SCA10
SCA14
SCA28
July 2005
Acid maltase deficiency
CMT 2A
Dystrophin mutations
Episodic ataxia
  EA2
  EA + Migraine & CNS
mtDNA depletion: SUCLA2
Parathyroid disease
SCA4
Tubular aggregates
August 2005
Acid maltase deficiency
  Adult muscle pathology
  Child muscle pathology
Cardiomyopathy + Ataxia
CMT 2A2
Desmin myopathy
Dysferlin
Friedreich ataxia
Gaze palsy + Scoliosis
Mitochondria
  Cardiomyopathy, histiocytoid
  MELAS
  MIRAS
  mtDNA depletion
    Encephalopathy
    Muscle pathology
  SANDO
Nodular myositis: Pathology
Sarcoglycans
Vanishing white matter
May 2005
CADASIL
Congenital MD
Goldberg-Shprintzen
Myosin-loss myopathy
Myotubularin: Carriers
Pathology
  IBM
  Index
  Muscle DDx
  Myosin-loss
PN Vasculitis
SMN protein
SPG: General principles
Subperineurial clear space
  Pathology
Thiamine deficiency
June 2005
ATPases: Disorders
ATP sensitive K+ channels
Barth syndrome
Bell's palsy
Cap myopathy
  Pathology
CEDNIK
CFEOM
CMTX: Type 5
Disc disease: Familial
LHON
Multiple myeloma
Myasthenic syndrome
Myofibrillar myopathies
  Filamin C
  Pathology
Neonatal perifascicular myopathy
  Pathology
Oxaliplatin
POEMS
Sarcocystis

March 2005
CMT 4A
CMT 4H
Complex regional pain
Cores: Pathology
Danon disease: Pathology
LGMD + Retardation
Marine (channel) toxins
  Brevetoxin
  Domoic acid
  Palytoxin
Multicore
  Pathology
  Syndromes
SPG 28
April 2005
Cerebellar ataxia, recessive
  Childhood onset
  Early onset with DTRs
  Joubert syndromes
CMT 1X: Variant syndromes
Diabetes
  Autonomic neuropathy
Distal myopathy
Dystrobrevins
MPP1
PEO: Dominant
Sarcotubular myopathy
Spastic paraparesis
  Optic atrophy + PN
Syntrophins
SRP myopathy: Pathology

January 2005
Ataxia + Upgaze palsy
Central hypoventilation
CMT: DIB
Congenital MD
  MDC1C
  Ullrich
Diabetic neuropathy
LGMD 1G
Myofibrillar myopathy
  ZASP
Myotonic dystrophy
  DM1 mechanisms
  DM2
Porphyria
SPG 3A
SPG 26
Tethered cord
Wallet websites
  Printable versions
February 2005
CK High
CMT IA
Fasciitis
  Eosinophilic
  Spanish toxic oil
Gap junctions
Lymphoma
Polymyalgia rheumatica
SCA 26
SPG 6
November 2004
ARVD
Brachial neuropathies
Central core
Cerebellar & Pancreas Aplasia
CMT 2L
Desmin
FSH: Pathology
Intermediate filaments
LGMD 2A
  Muscle pathology
Myogenesis
Myopathy with PEO
Neurofibroma
Rod myopathy
  α-actin
  Nebulin
SCA 18
Schwannoma
Scleroderma
Sjögren's syndrome
SPG27
Thymoma
December 2004
HNPP
Illustrations
Mitochondria
  Hepatoencephalopathy
  Myoclonic epilepsy
  tRNA Ile
Spinal AVM
Superficial siderosis
September 2004
ALS
  ALS 8
  Peripherin
Arthrogryposis: DA5
Bent spine syndrome
Dandy-Walker
DNA repeats: Poly-Alanine
LEMS: NCS
Leprosy
Mitochondrial
  MELAS
  PEO: POLG1
Neuromyotonia: KCNA1
Oculopharyngodistal myopathy
Paraneoplastic
  Ataxia: CARP 8
SCA 14
SMA: Distal
October 2004
CFTD
  Actin
Mitochondrial
  Encephalopathies
  NDUFS6
Myasthenia gravis
  MuSK deficiency
Myogenesis
Nephrogenic fibrosis
Presynaptic proteins
July 2004
Arthrogryposis
BSMA
Distal dystrophy
FSH: Genetics
LGMD 2J
Mitochondrial
  Complex I
  MERRF
  mtDNA mutations
  mtRNATrp mutations
  Myopathy + Anemia
  Myopathy + CNS
  Myopathy + Diabetes
  Neuro-GI syndrome
  PDHA1 deficiency
Muscle + CNS
Myotonic dystrophy
  DM2
  DM3
August 2004
Botulism
Compartment syndromes
Distal myopathy: MPD1
Hamstring injury
Joubert, type 3
Perineurioma
SCA 23
May 2004
Ataxia
  Dominant
  Joubert syndrome
CMT 2F
Distal HMN: Type II
PKAN
June 2004
Centronuclear myopathy
Leflunomide
Myostatin
Pelizaeus-Merzbacher-like
March 2004
αB-crystallin
Absent muscles
ALS 2
CMT 2G
CMT 2L
Copper deficiency
Erythromelalgia
HIBM + Dementia & Paget
HNPP
HSAN 3
Larsen syndrome
Multifocal motor neuropathy
Myasthenia gravis
  Pathology
  Slow channel syndromes
Myositis: Jo-1 syndrome
Navajo brainstem syndrome
Rods: Pathology
SCA 20
SMA, Distal, X-linked
SPG 23
April 2004
Acid maltase
Acute neuropathy
  IgG vs GT1a
ALS4
ALS 8
Amphiphysin
Ataxia
  AOA1
  CoQ10 deficiency
  Spastic
BSMA
Cardiomyopathy, dilated 1O
Channels
  TRP
  Temperature sensing
CMD + Desmin inclusions
Dystrophin protein
Hereditary neuropathy
  AR-CMT 2B
  CMT 2A
  CMT 2E
  HSAN II
Mitochondria
  ATP12
Molecular disorders
Myofibrillar myopathies
Ramsay-Hunt
January 2004
Ataxia
  EA 2
  EA 5
  SCA 5
  SCA 25
  SCASI
Schwartz-Jampel 2
February 2004
AOA 2
Asymmetric myopathies
Carey-Fineman-Ziter
Distal myopathy: MPD 3
Ethylmalonic encephalopathy
Hamstring weakness
Hemophagocytosis
HMN 5B
HSAN
  Absent pain
Mitochondria: Ultrastructure
Polyglucosan body disease
Reducing body myopathy
Respiratory failure
RPIA deficiency
SCA 14
SCA 17
SPG 17
Triosephosphate isomerase
November 2003
Acid maltase
ALS: MRI
CFEOM
CMT: Intermediate NCV
Facial nerve
  Ramsay Hunt
LGMD 2C: Pathology
MDC1C
MNGIE
Pyomyositis
Sjögren's syndrome
December 2003
Bortezomib
CIDP: Variants
MNGIE
September 2003
CCFDN
Congenital MD
  Severe mental retardation
Hyaline body myopathy
MG: Autoimmune
  Genetic & HLA associations
Inflammatory myopathy
  Abundant macrophages
LGMD 2C
Licorice
Möbius syndrome
Scapuloperoneal MD
SPG6
Temperature-sensitive channels

1996-2003 Revisions
October 2003
AVM, spinal
Cayman ataxia
Central core
Central hypoventilation
CMT 4C
CMT X + spasticity
LGMD 2D
Limbic encephalitis
MELAS: Images
Poland syndrome
SPG 21 (Mast syndrome)
July 2003
ALS
  Epidemiology
  Hereditary: ALS 20p
Antibodies: Ro/SSA
Ataxia: CSSA
Bickerstaff encephalitis
Bungner bands
Copper deficiency
Duchenne MD: Pathology
HSN: GE reflux & cough
LGMD 2I
Lipofuscin
Mitochondria
  General
  mtDNA
  Nuclear-encoded proteins
  Pathology
mutilated foot rat
Myasthenia gravis
  MuSK antibodies
Posterior neck weakness
Sjögren syndrome
SPG 5A
Tuberculosis
Ullrich congenital MD
August 2003
ALS: Western Pacific
Ataxias, Recessive
  Cerebellar ataxia 3
  Dandy-Walker
  Joubert syndromes
    Type 1: 9q34
    Type 2: 11p12
  Pontocerebellar hypoplasia
    Microcephaly
    PCH2
Chediak-Higashi syndrome
Congenital MG
  Weakness & Episodic apnea
Congenital neuropathy
  Hypomyelinating
Dermatomyositis: Mi-2+
Erb's palsy
Lamin A/C mutations
LGMD 1F
Necrotizing encephalopathy
Sensory PN: Large axon
Pathology
  CIDP, Childhood
  HIBM 2
  LGMD 2D
  MLD
  SMA 5q
  Vasculitis
  XBSMA
Sarcoidosis
SCA 17
Schwartz-Jampel
May 2003
Amyloid: TTR
HMSN
  CMT 1F
Myasthenia gravis
  Normal NMJ
  Repetitive nerve stimulation
SCA 22
Ullrich CMD
June 2003
Alpers-Huttenlocher
ALS: 16q; Long survival
Antibodies, IgG
  Lysoganglioside-GM1
Arthrogryposis, distal
Ataxia
  Congenital, X-linked
  SCA 2
  SCA 4
  SCA 15
Calcium channels
CMT: AR + Hoarseness
Cutaneous afferents
Duchenne MD
  Dystrophin mutations
Inflammation
  Focal invasion of fibers
  Jo-1 myositis
  PM + Mitochondrial path
LGMD: 1B; 2B
Masticator myopathy
Nemaline rod myopathy
SMA 5q: SMN2 gene
Sydenham chorea
Troponin
West Nile disease
March 2003
Ataxia
  Ataxia telangectasia
  Coenzyme Q10 deficiency
  Tremor & cognitive decline
Autonomic neuropathy
  Acute
  Diabetic
  Riley-Day
Cardiomyopathy, dilated
  Phospholamban
CMT 2C
DM2 (PROMM)
GBS: HLA types
LQT4
MG syndromes, Congenital
Mitochondrial disorders
  Adult onset CNS
Monomelic amyotrophy
Muscle innervation
  Arms
  Legs
Myopathy, pathology
  Excessive Autophagy
Neurofibromatosis-1
Phosphorylase deficiency
Rippling muscle
SCA 14
Spinal muscular atrophy
  Congenital fractures
  Distal + Vocal cord
  Pontocerebellar hypoplasia
April 2003
ALS
CMD + Rigid spine
Colchicine myopathy
Countries
Duchenne MD
  Dystrophin mutations
Hereditary neuropathy
  CMT 2D
  CMT 4B2
  Sensory
Immune myopathy
  Graft vs Host
  Interstitial lung disease
  Pathology
Krabbe
Lyme disease
Musicians: Disorders
Myasthenia Gravis
  Anti-MuSK antibodies
  Congenital: Rapsyn
Paraneoplastic: Ri antibodies
Potassium channels: KCNQ
Pre-mRNA splicing
Satoyoshi syndrome
SMA, distal: Type V
January 2003
Axonal swellings
BSMA
Bulbar dysfunction
Cardiomyopathy, Dilated
CIDP variants
CMT 2B
CMT 4B2
Cold-induced sweating
CV: Pestronk
Endocrine disease
Friedreich ataxia
Giant axonal neuropathy
HMSN
  Comparative features
Lab testing
Mitochondrial disorders
  mtDNA depletion
  Leigh syndrome
    French-Canadian
    SDHA
  LHON
  Sensory neuropathy
Pipestem capillaries
Refsum: PEX7
Requisition: Serum tests
Selenium deficiency
Syphilis
Stiffperson syndrome
Tendon reflexes
Toxic myopathies
  Ethanol
Vocal cord disorders
February 2003
Arthrogryposis: 1; 2B
Ataxia, Paraneoplastic
  Anti-neural antibodies
  General
  Tr antibody
  Yo antibody
Axonal sensory PN: Immune
  IgM vs TS-HDS
CMT 1A: Small mutations
Collagen disorders
Costamere
Extracellular matrix
Hemifacial spasm
Madras MND
NM Disease Center
POEMS syndrome
Ross syndrome
Test forms
  Muscle + NMJ
 
Nerve
Tetanus
November 2002
AAA syndrome
ALS: SOD1 mutations
Centronuclear myopathy
Duchenne MD
Emery-Dreifuss MD
Mitochondria: Solute carriers
Myopathy: Focal
Nemaline rod myopathy
Pain
Rett syndrome
SOX10
Statin myopathy
December 2002
CMD + Cerebellar cysts
CMT
  IA
  IC
  4A
  Axonal Recessive 2A
  P0 mutations
Dyggve-Melchior-Clausen
HTLV I
Long QT syndromes
MG, congenital
  δAChR subunit mutations
  Congenital + Acquired
Oculodentodigital dysplasia
SCA: FGF14 mutation
SPG: Recessive
Toxic neuropathies
  Ethylene glycol
  Thalidomide
September 2002
Ataxia with neuropathy
Giant axonal neuropathy
Myositis
  U1-snRNP antibody
Nemaline rod myopathy
SCA 19
SCA 21
West Nile virus
October 2002
Andermann syndrome
Burning mouth
CMT X
FSH dystrophy
Muscle biopsy results
Pain
Spastic paraparesis
  SPG 2
  SPG 10
SRP pathology
Waldenström's
Walker-Warburg
July 2002
Andermann syndrome
Congenital MD + JEB
Dystrophin-associated proteins
Lab test forms
LGMD 2J
Rabies
SPG
  Infantile onset
  20 (Troyer)
Test forms
August 2002
Ataxia
  Tremor & Cognitive decline
FSH dystrophy
Isaac's syndrome
LEMS
Multicore myopathy
Myotonia: DM1 vs DM2
Schwann cell & Myelin
TRAPS
May 2002
Desmin myopathies
Hirschsprung
Home
Myoglobinuria
Neurofibromatosis-2
SPG 19
Statin neuropathy
Ullrich CMD
June 2002
Danon disease
Disc disease, familial
K+ channels: Kir
Laminin α2 disorders
Myogenesis
PEO: POLG1
SMA 5q: Clinical-Genetic
Wallerian degeneration
March 2002
α-Methylacyl-CoA racemase
Cytochrome b deficiency
Patient information
Polyalanine repeat disorders
Santavuori CMD
Serum CK High: Unexpected
Spastic paraparesis, familial: SPG13
April 2002
Celiac disease
Cryoglobulin
Fumarate hydratase
GI + Neuromuscular
Gowers-Laing myopathy
Hepatitis C
HSMN + Ataxia
Intermediate filaments
Mulibray nanism
Myotonic dystrophy
Oxaliplatin
Sjögren's syndrome
January 2002
Anhidrotic ectodermal dysplasia
Ankylosing spondylitis
AR-CMT2A
Cardiomyopathy: Dilated 1G
Colchicine myopathy
Dermatomyositis: Amyopathic
Hemosiderin
HSAN 4
LGMD 2H
Lipid disorders
  Fatty acid oxidation
  Ichthyosiform erythroderma
Neurogenic Osteoarthropathies
  HMSN + Ulcero-mutilation
MG, congenital
  AChR disorders: Kinetic
  Rapsyn mutations
Neuronopathy, sensory: Anti-Hu
Post-Gastroplasty syndrome
Spastic ataxia
  SAX 1
Spastic paraparesis, familial: SPG4
February 2002
Angiotropic lymphoma
Carey-Fineman-Ziter
Dermatomyositis pathology
  Adult
  Childhood
Fatty acid oxidation
Isotretinoin
Konzo
LGMD syndromes
  LGMD 2I
Membrane-associated proteins
  Muscle
  Neuromuscular junction
M-proteins
NMJ disorders
Scapuloperoneal syndromes
Spastic Ataxias
Toxic neuropathies
  Platinum analogs
  Taxol
November 2001
ALS: Dominant; 18q21
Bulbo-Spinal Muscular atrophy
Cardiomyopathy: Dystrophinopathy
CMT 1C
CMT 2A
Deafness: Mitochondrial
DNA repeat disorders: CAG/CTG
Fabry's disease
n-Hexane intoxication
Ifosfamide neuropathy
King-Denborough
Lhermitte-Duclos
McLeod syndrome
Mitochondrial myopathy: Dominant
Myasthenic syndromes
  Antibodies: Titin & Other
  Diagnostic tests
SCA 12
Scapular winging
Thin filaments: Structural
December 2001
Ataxias
  Dominant
  Episodic
CMT
  4A
  AR-CMT2 + Hoarseness
Dermatomyositis: Pathology
Desmin cardiomyopathy
Emery-Dreifuss MD
Episodic ataxia 2
Hexacarbon neuropathies
IBM + Paget's & Dementia
LGMD 2I
Metalloproteinases
MG, Immune
  Genetic associations
Monensin
PEO
Poland syndrome
Rod myopathies
SCA 15
Sensory neuronopathies
Sickle cell disease
Siderosis, superficial
SMA, Distal
SOX10
Spastic paraparesis
  Phenylketonuria
Thymoma
September 2001
Ataxic PN + Anti-GD1b Ab
FSH dystrophy
Large nerves
Neuropathy + IgM vs GD1a
Myotonic dystrophy
SMA: 5q
October 2001
αB-crystallin
Amyotrophic lateral sclerosis
  Hereditary: ALS2
  Western Pacific ALS variant
Ataxia
  Adult; Thalamic lesions
  AOA 1
Biological terrorism: Links
  Botulism
  Manuals
Botulism
Calciphylaxis
Distal myopathy, Hereditary
DNA repeat disorders
CFEOM
HIV-associated neuropathies
LGMD1C
Mitochondrial
  mtDNA Depletion syndromes
    Hepato-Cerebral
    Myopathy
  SCO2 deficiency
Motor PN + IgM vs GalNAc-GD1a
Mushroom intoxication
Myoglobinuria: Drugs & Toxins
Myokymia + Neonatal Epilepsy
Neuralgic amyotrophy, Hereditary
Oculopharyngeal MD
Ophthalmoplegia + NM disorders
PLS, Juvenile
Rippling muscle syndromes
SCA7
Spastic paraparesis: SPG3A
Statin myopathies
Wallet WebSites
  Demyelinating neuropathies
  Myopathy
  Neuropathy
July 2001
β-enolase deficiency
LGMD 2B
Mitochondrial disorders
  Myopathies
  PEO
Morvan's fibrillary chorea
Rod myopathy
SCA 16
August 2001
Antibodies
  Oligosaccharide antigens
  Specific antibodies
  Testing methods
Ataxia, Laryngeal paralysis
    & Motor neuropathy

CMT
  2F
  Intermediate NCV
Congenital MD + Rigid spine
Congenital MG: Arthrogryposis
Deafness-Dementia syndromes
Diabetes: Antibodies
DM2/PROMM
EGR2: CMT1 & Other disorders
Fingerprint body myopathy
Freidreich ataxia 2 (FRDA2)
Glycogen storage disorders
Hand-arm vibration syndrome
Herpes zoster
HMSN-Russe
IBM, Recessive
Lipid disorders
Myopathy-related proteins
Myopathy with tubulin inclusions
Nemaline rod myopathies
Neuromuscular clinical lab
Neuropathy testing
Organophosphate toxicity
Scapular winging
Sensory neuropathy: Distal
SMA, Distal + Respiratory failure
Thalidomide neuropathy
Wegener's granulomatosis
May 2001
Ataxia: CoQ10 deficiency
β-Enolase
Bulbo-spinal muscular atrophy
Cardiomyopathy
  CMH6
  Hypertrophic
CIDP: Variants
Distal motor axons
EMG: Partial denervation
Goldberg-Shprintzen
HMG CoA synthase deficiency
HNPP
Hypo-K+ periodic paralysis
K+ channels: KCNJ2
Macrophagic myofasciitis
MAG neuropathy
Migrant sensory neuritis
Muscle-Eye-Brain disorders
Muscles: Focal enlargement
Myopathy + Excess autophagy
Neuralgic amyotrophy
Neuroacanthocytosis
Periodic paralysis
  Andersen syndrome
  Comparative features
POEMS syndrome
Neuropathy + Respiratory failure
  Lethal neonatal axonal
  Infantile axonal
Rod myopathy: Pathology
Receptors
  Adenosine
  ATP
  Purine (P2)
Sensory neuronopathy: Anti-Hu
SPG15
Tangier disease
VLCAD, myopathic type
June 2001
Ataxias: Recessive
B12 deficiency
Churg-Strauss
CMT: 1A; 2A
Fazio-Londe
Guillain-Barré Syndrome
  NCV features
  Prognostic factors
LMN syndrome: Paraneoplastic
MG: Ocular
Paraganglioma &
  Pheochromocytoma

Pathology & Illustrations
Progressive external ophthalmoplegia
Rippling muscle syndrome
Rod myopathy
Scheie syndrome
Scleromyxedema: Pathology
Sjögren-Larsson
SPG 17 (Silver syndrome)
TRP ion channels
Ullrich CMD
West Nile virus
March 2001
Barth-like syndrome: Mitochondrial
Hereditary motor neuropathy, Jerash
Hereditary sensory neuropathy
Matrix metalloproteinases
McLeod syndrome
MG: Anti-AChR antibody -
Rippling muscle syndromes
April 2001
Adrenomyeloneuropathy
Ataxia + Intellectual deterioration
Cl- channels: Disorders
Congenital MD + rigid spine
Connective tissue disease
  Scleroderma
  Vasculitis
Episodic ataxia 2
Erythromelalgia
Ethylene glycol
Motor neuron Disorders
  Differential Diagnosis
  Distal HMN 7
HIBM + Respiratory failure
Immunomodulation
  Treatment strategies
LGMD 2A
Miller Fisher syndrome
Multifocal motor neuropathy
Neuralgic amyotrophy
POEMS syndrome
Potassium channels: KCNK type
Scapular winging
Search
SPG2
Sports & Occupations
Strychnine
Tomaculae
Wallerian degeneration
January 2001
Anti-Decorin myopathy
Barth syndrome
Botulinum toxin
Ca++ channel disorders
Cartilage-Hair hypoplasia
CMT 2A
Congenital myopathy + Spindle excess
Delayed onset muscle soreness
Familial dysautonomia (Riley-Day)
Heroin
Intermediate filaments & disorders
Itch
Mitochondrial disorders
  COX deficiency: French-Canadian
  Infantile encephalopathy: 2p14
  Leber's optic neuropathy
  MELAS
  tRNAGlu
Myositis with associated
  Antibodies: Mi-2; PM-Scl
  Neoplasms
Pain: General principles
Pathology
  Biopsy findings: Neuropathy
  Demyelination: Active
  Giant axonal neuropathy
  Granulomas
  Myositis + anti-Jo-1 Ab
Periodic paralysis
  Hyperkalemic
  Hypokalemic
Posterior neck weakness
Proton-gated ion channels
February 2001
AAA syndrome
Ataxia, Recessive +
  Hypogonadism
  Oculomotor apraxia
CMT: AR + Pyramidal signs
Congenital MG + Episodic apnea
Distal myopathy: Gowers
Mitochondrial disorders
  Biochemical classification
  Cardiomyopathy +.. (NDUFS2)
  Fatty acid oxidation disorders
  LHON
Muscle wasting
Oculopharyngeal MD
Paraneoplastic
  CRMP-5 syndromes
Rabies
SCA: Dominant
Visual field defects
November 2000
AAA syndrome
AMPD1 deficiency
Camurati-Engelmann
Cerebral palsy, Ataxic
CMT 2B
Diabetes
Emery-Dreifuss: Pathology
Giant axonal neuropathy
Insulinoma + Neuropathy
LGMD: General features
P0 mutations
  CMT 2F
  Syndromes
Paragangliomas
Rett syndrome
Schwartz-Jampel syndrome
1° Skeletal Disorders
Spastic ataxia
Stiffperson syndrome
Uruguay syndrome
December 2000
ALS-FTD
Centronuclear myopathy
  Dominant
Ciguatera
CMT, Recessive
  AR-CMT2B
  Axonal
  CMT 4F (Dejerine-Sottas)
Fukuyama CMD
IBM3 (Hereditary)
LGMD 1D
Mitochondrial disorders
  Infantile onset
Myosin-loss myopathy
Necrotizing myelopathy
September 2000
ALS1: SOD1 mutation
Distal myopathies: Hereditary
FSP: X-linked
Glycogen storage: Lamp-2
HMSN 5
Mitochondrial disorders
  Clinical syndromes
  Infantile encephalopathy: SCO1
  Optic atrophy
LGMD 1C
Mountain sickness
Myotonic dystrophy
Nucleosome, Antibodies
Painful neuropathies
Pandysautonomia, Acute
Potassium channels: KCNQ
Sarcoid
SCA 8
SCA 10
SMA 5q
  SMN genes: SMN1; SMN2
  Genetic correlations
October 2000
Acute motor axonal neuropathy
ALS
  Hereditary
  ALS6
  Bulbar, Hereditary
Ataxia with Oculomotor apraxia
ATPase disorders
Congenital muscular dystrophy
  Retardation & Cerebellar cysts
  Muscle hypertrophy & Retardation
Hypokalemic periodic paralysis
LGMD: General features
Myopathy + Paget disease
Neuropathy with Minifascicles
Pyomyositis
SCA 10
Ubiquitin proteolysis: Disorders
Vacuoles: Differential diagnosis
July 2000
Calciphylaxis: Pathology
Central European encephalitis
Cerebrotendinous xanthomatosis
Distal SMA: HMN VB
Familial spastic paraplegias
HMSN-Russe (HMSNR)
Lipid lowering agents
Mitochondrial disorders
  Complex IV deficiency
  COX 10 mutation
  Pathology
Muscle infarction: Diabetic
Neuroacanthocytosis
Nigerian ataxic neuropathy
Paraspinous muscle weakness
Periodic fever + Focal myositis
Salla disease
Sjögren's syndrome
Skeletal disorders
Stiffman syndrome
West Nile Virus
August 2000
Acromegaly
Arsenic
Ataxia syndromes: Congenital
Axon loss: Differential fascicular
Calcium channels
Demyelination: Chronic
Creatine kinase (Serum): Low
Denervation of muscle
Dysthyroid ophthalmopathy
HMSN: Focally folded myelin
Large muscles
LGMD 1A
Muscle fiber smallness
  Type 1
  Type 2
Myasthenia gravis: Ocular
Myosin disorders
Myositis: Animal models
Nerve biopsy: DDx
PEO, Dominant: Type 3
Periodic paralysis
  Hyperkalemic
  Hypokalemic
Rod myopathy: Troponin T1
SCA14
Vasculopathy: Thick walls
May 2000
Anti-MAG neuropathy
Ataxia: Congenital, X-linked
BSMA: Muscle pathology
Brody's syndrome
Buckthorn
Central core/Malignant hyperthermia
Centronuclear (Myotubular) myopathy
Chlorophenoxy toxicity
CMT 4B
CMT 4D (Lom)
Demyelination: NCV
Dystrophinopathies
External links
Hexachlorophene
Ion channels
Limb-Girdle dystrophy 1B
Melkersson-Rosenthal syndrome
Myelin-associated glycoprotein
Myotonic dystrophy
  Disease mechanisms
Pathology: Chronic demyelination
Respiratory failure
SCA 13
Spinal muscular atrophy 2
Test request forms
  Antibodies
  Muscle & Other
  Neuropathy
Venous insufficiency
Vitamin D deficiency
June 2000
Barium
Cocaine
Duchenne muscular dystrophy
CMT 2E (NF light chain)
CMT 4F
Dermatomyositis: Calcinosis
Limb-Girdle dystrophy 2I
Minicore (Multicore) myopathy
MNGIE
Mulibrey Nanism
Myotoxins
Sarcoid
SPG 14
Wallet WebSites
March 2000
Acetylcholine receptors: Nicotinic
Benign acute childhood myositis
CADASIL
Chediak-Higashi
Congenital MD with rigid spine
Congenital myopathy & weakness
EMG
  Pseudofacilitation
  Repetitive response to 1 stimulus
Inclusion body myositis
IOSCA
Lamin A/C disorders & EMD2
Limb-Girdle dystrophy 2C
Myopathy syndromes
Myotonic dystrophy
PCA-2 antibody
Polymyositis: Classification
Ptosis: Congenital
Sodium channel disorders
Spastic paraparesis: SPG4
Wolfram (DIDMOAD)
April 2000
Adult-onset leukodystrophy
Anti-AChR antibodies
Anti-AChR antibody actions
Ataxia: Early onset, Retained reflexes
Brachial Plexopathy: Hereditary
Branching enzyme deficiency
Brown-Vialetto-van Laere
Ciguatera toxins
Complex regional pain syndrome
Congenital myopathy with apoptosis
Demyelinating neuropathy
  Anti-GalNAc-GD1a & GM2 antibodies
Distal lower motor neuron syndromes
Hoyeraal-Hreidarsson syndrome
Leptospirosis
LGMD: 2B; 2E
Mitochondrial
  Exercise intolerance: Sporadic
  Pathology
Monomelic amyotrophy
Myasthenic disorders
  Congenital myasthenic syndromes
Nemaline (Rod) myopathies
Neuropathies: Ataxic & Large Fiber
SDH, Subunit A
January 2000
All-Trans-Retinoic Acid
Congenital MD with respiratory failure
Dominant neuropathy with ulcero-mutilation
Familial spastic paraplegia: SPG12
Focal fibrosing myopathy
Facioscapulohumeral (FSH) dystrophy
GBS-variant: IgM vs GalNAc-GD1a ganglioside
HMSN: Focally folded myelin sheaths
Immunomodulating therapies
Interferon-α: Neuropathy
Lymphoma & related syndromes
Myosin-loss myopathy: Pathology
Nemaline (Rod) myopathies
Paraneoplastic cerebellar syndromes
  mGluR1 antibody
  Tr antibody
Tick paralysis
Vasculitis: Epineurial vessels
February 2000
α-Methylacyl-CoA racemase deficiency
Anti-Sulfatide antibodies
Ataxia: Dominant
Autonomic syndromes: Hereditary
Charlevoix-Saguenay - Spastic Ataxia
Cleidocranial dysplasia
Epiphyseal dysplasia with myopathy
Facioscapulohumeral (FSH) dystrophy
Focal myositis
Friedreich ataxia
Hereditary motor syndromes
HMSN-P
Lambert-Eaton MGe
Leukoencephalopathy, vanishing WM
LGMD 2G
Mitochondrial disorders
  Complex I deficiency
Paraganglioma
POTS
SCA8
Serotonin syndrome
SPG, Dominant: 10; 12; 13
Spinal muscular atrophy: 5q13
Tyrosinemia
November '99
Amiodarone
Anion exchangers
Ataxia: SCA1; Cerebellar ataxia-1
ATPase: Disorders
Camera-Marugo-Cohen Syndrome
Cardiomyopathy: Dilated
Cyclosporine myopathies
Cytochrome b (MTCYB; Complex III) δ
Diabetes: NIDDM
Duane's syndrome
Fukuyama congenital muscular dystrophy
Lipid storage disorders
Marinesco-Sjögren
Mitochondrial disorders: Pathology
Myalgia: Familial, Mitochondrial
Myofibrillar (Desmin) myopathies
Primary lateral sclerosis
Rippling muscle syndromes
Spastic Paraparesis (Dominant): SPG4
Spinal muscular atrophy (5q)
Taxol
December '99
Cardiomyopathy
  Dilated CMD1A
  Mitochondrial (SCO2)
Cerebellar ataxia
  Ataxia telangectasia-like syndrome
  Salla syndrome
  SCA12
CIDP + Diabetes mellitus
CK: Very high
Congenital MG: AChR subunit Δ
Congenital & familial NMJ Δ
CFEOM
Congenital myopathies & weakness
Critical illness polyneuropathy
Debrancher deficiency
Diabetic polyneuropathy
DNA repeat disorders: CAG
External links
Familial partial lipodystrophy
Hemophagocytic lymphohistiocytosis
HLA: Disease associations
Hypokalemic periodic paralysis
Isaac's syndrome
Lumbosacral plexopathies
Malignant hyperthermia
MELAS
Multiple acyl–CoA dehydrogenase
Myofibrillar (Desmin) myopathy
Neurofibromatosis-1
Reducing body myopathies
Riboflavin-related syndromes
Selenium deficiency
Spinal muscular atrophy
  Bulbo-Spinal (Dominant)
  Distal
  Diaphragmatic & Neonatal
Syndromes: Neuropathy & myopathy
September '99
Acute immune neuropathies
Ataxia: Dominant
Carnitine : Systemic causes
Demyelinating neuropathy
  Pathological features
  SOX10
Diphtheria
Emery-Dreifuss MD
Episodic weakness: X-linked
MAG neuropathy
Malignant hyperthermia/Central core
McLeod syndrome
Mitochondrial
  ATPase deficiency
  Kearns-Sayre
  Myopathy: COX II δ
Multiple symmetric lipomatosis
Myelin & Schwann cell components
Navajo neuropathies
Posterior neck weakness
Protein degradation: Chaperones
Sensory neuronopathy: Anti-Hu
VLCAD deficiency
Wallet WebSites: Nerve & Muscle
Welander distal myopathy
October '99
Actin & Thin filaments
Congenital myopathy: Thin filaments
Guillain-Barré syndrome
Hypo-K+ periodic paralysis
Lead intoxication
Myositis: Jo-1 syndrome
Nemaline rod myopathy
Neuropathies: Painful
Palmaris brevis spasm
Polyarteritis nodosa
Williams-Beuren syndrome
July '99
Alcoholic (Ethanol) polyneuropathy
ALS1: Superoxide Dismutase mutation
Andersen periodic paralysis
CIDP
  Upper limb
Dermatomyositis
Dioxins
Mitochondrial + CNS δ: HHH syndrome
Möbius syndrome
Neuropathy
  Autoantibodies
  Upper extremity onset
Oculopharyngeal muscular dystrophy
PEO
Presynaptic proteins
SCA
  Differential diagnosis
  SCA 11
Spastic Paraparesis: Recessive 15q13
Spinal cord disorders
Statins: Neuropathy
August '99
ATP disorders
CMT: Recessive, Axonal
Cytoplasmic body myopathies
Debrancher deficiency
Facioscapulohumeral dystrophy
SPG 10
Limb-Girdle (LGMD) syndromes
Mitochondrial δ
  Leigh syndrome
  Nuclear mutations
  Solute carriers
Muscle pathology
  Chronic partial denervation:
  Internal architecture: NADH
Myotonias
Proteasome degradation
Sjögren's syndrome
Tangier disease
May '99
Bethlem myopathy
Bulbo-Spinal Muscular Atrophy
Chronic immune demyelinating neuropathies
CMT 4C: 5q23
Complex repetitive discharges
Congenital sensory neuropathy + anhidrosis
Emery-Dreifuss muscular dystrophy
Eosinophilia myalgia
Eosinophilic fasciitis
Eosinophils
External links
Facial nerve
Hepatitis C
Hexacarbons
LGMD 2A
LGMD 2B
Macrophagic Myofasciitis
Pathology
  Distal myopathy: Vacuolar
  Muscle: Unknowns
  Nerve: Demyelination
  Perineuritis
Proximal lower motor neuron syndrome
Riley-Day
Sideroblastic anemia & Ataxia
Vitamin syndromes
June '99
Burning feet syndrome
Centronuclear myopathy
Cramp & Neuropathy syndrome
Deafness-Dystonia syndrome
Dystrophinopathy: Female Carrier
HMSN:
  Congenital Cataract & Facial δ
Lab testing
Leigh Syndrome
LGMD 1A
PEO: Dominant
Toxic neuropathies
March '99
ALS: Hereditary; NF-H Mutations
Amyloid myopathy
Cadmium
CMT & HMSN
  Comparative features
  Cowchock syndrome
CPT2 deficiency
Creatine treatment
Cuban neuropathy
Deafness: Mitochondrial syndromes
Emery-Dreifuss muscular dystrophy
EMG
  Paramyotonia
  Rapidly firing motor units
  Tetany
Hyperkalemic periodic paralysis
LGMD 1C
Muscle biopsy: AAN course
Nerve
  Normal
  Regenerating clusters
  Wallerian Degeneration
Pathology
  Acid maltase deficiency
  Central core
  Congenital MD
  Hypokalemic periodic paralysis
  Lipid storage
  Tubular aggregates
Vernant's disease
April '99
Ataxia: SCA 8
Bethlem myopathy
Churg-Strauss
cis-Platinum
Familial SPG: Recessive
Paraneoplastic: CV-2; Ma
Polymyalgia Rheumatica
Skin δ
January '99
Anti-Sulfatide neuropathy
B12 deficiency
Cerebral palsy: Symmetric
CIDP
CMT1B
MNGIE
Muscle-Eye-Brain Disease
Muscle infarction: Diabetic
Neuropathy syndromes
Posterior column ataxia
   + Retinitis pigmentosa

PROMM
SCA10
Spastic paraplegia (SPG8)
Visual loss: Paraneoplastic
Wolfram syndrome
February '99
Carey-Fineman-Ziter syndrome
Cytoplasmic body myopathies
Dejerine-Sottas (HMSN 3)
EMG: Partial denervation
Friedreich ataxia
Large nerves
LCHADD
LGMD 1D
Local hypertrophic mononeuropathy
Myasthenic syndromes
  # of AChRs at NMJs: Hereditary
  Neonatal transient
  Pregnancy
  Short channel open time
  Slow channel
Myositis: Signal recognition particle
Protein degradation
Neuromuscular Clinical Laboratory
Spastic paraplegia: Dominant
Spinal cord disorders
Tubular aggregates
Vasculitic neuropathies
November '98
ALS: Hereditary
Amyloid: Transthyretin
Distal myopathy with
   Vocal cord & Pharyngeal Weakness

HMSN & CMT
LGMD 1C: Caveolins
Leigh's syndrome
Limb-Girdle Dystrophies
Myoglobinuria: General features
Myotonic dystrophy
Neuropathy: Lethal neonatal
NM disease: General patterns
Tendon reflex arcs
December '98
ALS: Discussion of diagnosis
Carnitine deficiency: Systemic
Congenital weakness: Diaphragm
Connexins
Electromyography
  Fibrillations
  Myopathy
Mitochondrial disorders
September '98
Achalasia
Bethlem myopathy
Cardiomyopathy: Dilated
CMT 1B
Congenital MD: Integrin α-7
Desmin myopathies
Endplate AChE deficiency
Herpes Zoster
Hirschsprung's congenital megacolon
LGMD 2A
LGMD 2B
Lower motor neuron δ: Asymmetric
Myotonia & periodic paralysis
  Comparative features
Nemaline (Rod) myopathy
Paraneoplastic syndromes
Myositis: Idiopathic, Familial
Peripheral nerve tumors
SCA8
Stuve-Wiedemann syndrome
Tangier disease
Weakness: Proximal arm
October '98
Autonomic δ: Hereditary
CANOMAD (Anti-GD1b neuropathy)
Holmes-Adie syndrome
CMD + Epidermolysis Bullosa
Long QT Syndromes
Myasthenia Gravis: Autoimmune
Neuroleptic-Malignant Syndrome
Paraneoplastic syndromes
Nemaline rods
Spastic paraparesis: Familial
Type II muscle fiber atrophy
July '98
Acromegaly
Asymmetric neuropathies
Botulism
Ca++ channels
Cardiomyopathies: Genetic
Distal myopathy
  Hereditary
  Welander
Familial spastic paraparesis
  SPG7 & SPG5C
  X-linked
Fukuyama congenital MD
Germanium myopathy
Inflammatory myopathies
Lambert-Eaton myasthenic syndrome
Mitochondrial
  Myopathy: Sporadic
  Other adult syndromes
Muscle pain & discomfort
Neuromuscular Disease Center
Proteasomes
Rippling muscle syndrome
Skin δ & neuromuscular disease
Tetrodotoxin
Vitamin disorders
August '98
Anti-MAG neuropathy
Barth syndrome
Ca++ channels
Congenital fibrosis of EOM
Desmin myopathies
Extraocular movement δ
Horner's syndrome
Mitochondrial
DNA: General
MNGIE
Respiratory chain
Myosin: Unconventional
Na+ channel disorders
Porphyria
Thoracic outlet syndromes
Triosephosphate isomerase
May '98
Acetylcholine receptor disorders
Asymmetric neuropathies
Brachial plexopathies
Calciphylaxis
Cardiomyopathy: Dilated
Cytokines
Endocrine disorders
Epibatidine
Fasciitis
Hyperthyroidism
Immune axonal neuropathy
Leprosy
Lumbosacral plexopathies
Macrophagic myofasciitis
Malignant hyperthermia
Mitochondrial disorders
Mitochondrial respiratory chain
Myopathy with abnormal merosin
Pathology
  Paraneoplastic necrotic myopathy
Polyneuropathy: Differential Diagnosis
Posterior neck weakness
Procainamide neuropathy
Spinal Muscular Atrophy: 5q
  Lower motor neuron syndrome: Adult
Sports disorders
  Quadrilateral space syndrome
  Suprascapular nerve lesions
T-cells
June '98
Ca++ channel disorders
Carnitine deficiency: Systemic
CMD & rigid spine
SPG5C
Limb-Girdle Dystrophy 2H
Mitochondrial myopathy
Myotonic dystrophy
Nociceptors
Polymyositis
Respiratory failure
Spastic ataxias
March '98
ALS: Hereditary; ALS4
Amyloid: Pathology
Autonomic pathways
Carnitine disorders
Denervation: Muscle
Diabetic PN: Symmetric
Lithium: Neuropathy
Motor neuropathies
Muscle pain
Nerve biopsy
Nerve: Inclusions
Paraneoplastic syndromes
  Cerebellar
  CV2
Sensory neuronopathies
Trichinosis
  Pathology: Acute; Chronic
April '98
ALS4
Centronuclear myopathy
Mitochondrial disorders
  Deafness
  Leigh's
Neuropathy: Myelin δ
  CMT1: EGR2
  CMT: LOM
  CMT: X-linked
  Congenital hypomyelinating
  Immune
  Motor
Distal myopathy: Tibial
Glycolipid structures
Limb girdle dystrophy 1C
SPG: Presenilin 1 δ
January '98
Amyloidoma
Ataxia: Dominant
Bulbo-Spinal Muscular Atrophy
Carpal tunnel: Childhood
CMT & Deaf (Recessive)
Congenital myopathy: Mitochondrial
Cranial nerve anatomy
  3, 4, 5, 6, 7, 8, 9, 10, 11, 12
DNA repeat disorders
FK506 (Tacrolimus)
Hopkins' syndrome
K+ channels: KCNQ
Myasthenia gravis: Associated
Myopathies +tubular aggregates
Oculopharyngeal MD
February '98
Acute neuromuscular disorders
Carnitine disorders
CIDP
Leukocyte emigration
Miller Fisher Syndrome
Mitochondrial Disorders
  Clinical evaluation
Muscle biopsy Δ: DDX
Myopathy: Chondroitin sulfate C
Neuropathy + GD1b antibodies
Paraneoplastic syndromes
Pathology & Illustrations
  ALS: Denervation in muscle
  Anti-neural antibodies
  Axonal loss & Wallerian degen
  Axonal swellings
  Fasciitis
  Focal myositis
  Inclusion body myositis
  Lipofuscin
  Myopathy: Chondroitin sulfate C
  Oculopharyngeal MD
  Regenerating axon clusters
Stiffman syndrome:
  Clinical
  Neurophysiology
Treatment
  Cyclophosphamide protocol
  Solumedrol protocol
November
ALS: Recessive syndromes
AP
Ca++ channels: P-type & SCA6
Desmin storage myopathies
DNA repeat sequences: CAG
Epidural lipomatosis
Geniospasm
Illustrations & Pathology
  Becker muscular dystrophy
  Denervation: Ongoing
  Dermatomyositis
  Glycogen metabolic pathways
  Inflammation: Cell patterns
  Inflammatory myopathy
  Lipid storage
  Muscle fiber structure & contraction
  Myotonic dystrophy
  Phosphorylase deficiency
Inflammatory & immune myopathies
Ion channels
  Diagrams
  K+ channels & disorders
  Na+ channels & disorders
Multicore disease
Thermosensitive neuropathy
Tick paralysis
Ubiquitin & Protein degradation
December
Absent muscles: Holt-Oram
B12 deficiency
CMT2
Emery-Dreifuss MD
Inflammatory & immune myopathy
  Anti-decorin (BJ antigen)
  Focal myositis
  Graft-vs-Host disease
  Granulomas: Etiology
Mitochondrial disorders
MG: Immune; Clinical
Pathology
  Neonatal perifascicular myopathy
Refsum's syndromes
Wallet WebSite: Myopathy
September
Adhesion molecules
Adrenomyeloneuropathy
Ca++ channels
CIDP
Distal weakness in myopathies
FSH dystrophy
Inclusion body myositis
Inflammatory myopathies
Muscle contraction
  Skeletal
  Smooth
Myopathy + ringed fibers
Nemaline rod myopathy
Pathology: Muscle & Nerve
  Duchenne MD
  Emery-Dreifuss MD
  Fiber type size disproportion
  Index
  Myasthenia Gravis
Skin disorders & NM disease
Spheroid body myopathy
Ubiquitin & Degradation
Vasculitic neuropathies
Wallet WebSites
October
Anti-GM1 antibody testing
Autonomic mechanisms
Congenital Hypomyelinating PN
CPOnline: Site downgraded;
  Links removed
Distal MD IIa: Finnish
HIV & Neuromuscular
Ion channels
  Binding proteins
  Cl- channels & Δ
  Gap junctions
  K+
Long QT Syndromes
Muscle: Protein complexes
Myelin & Schwann cells
Dilated cardiomyopathy
Pathology & Illustrations:
  AChRs: Nicotinic
  ANA patterns
  Demyelination
  Dysmyelination
  FSH dystrophy
  Mitochondria
  Myelin proteins
  Peripheral nerve
SMA: Congenital + Leg weakness
Spliceosomes
Wallet WebSite:
  Serum antibodies
  Spinal
Tabes dorsalis
July
Dystrophin & related proteins
Muscle biopsies
Neuropathies: Painful
Ophthalmoplegias: Congenital & Hereditary
Presynaptic proteins
Renal & Hepatic disorders
Trophic factors
  Bone morphogenetic proteins
  Cytokines
  Semaphorins
August
Autoantibodies: Nerve
Cardiomyopathies
Congenital weakness: Focal
Diabetes
External links
Spine disorders & myelopathy
Neuromuscular Disease Center
Perineuritis
Protein degradation
Tendon reflexes
May
Baltic myoclonus
Carbohydrate-deficient glycoprotein
Catecholamines
Congenital absence of muscles
DNA repeat disorders
Familial MG syndromes
Ion channel disorders
Malignant hyperthermia
Mitochondrial syndromes
Molecular & Cellular Classifications
Nerves & muscles
  Upper extremity
  Lower extremity
SCA 2
SCA 7 (ADCA II)
SMA: Hexosaminidase A deficiency
June
Adhesion molecules
Anti-nuclear antibodies
Ataxia: Multiple hamartomas
Cranial nerve disorders
Distal myopathies: Hereditary
Ethanol-induced myopathies
External links
Ion channel disorders
Mitochondrial syndromes
Muscle biopsies
Myoglobinuria
Myosin & associated proteins
Respiratory failure
Rhabdomyolysis
March 97
ALS: Hereditary
Amyloid
Childhood neuropathies
Contractures
Cramps
Familial Myelopathies
Infections & Neuropathy
Motor neuron disorders: Hereditary
Multifocal motor neuropathy
Muscle fiber activity
Muscle pain
Myasthenic syndromes: Drug- induced
Myelopathies: Familial, Spinal
Myoglobinuria/Rhabdomyolysis
Na+ channel myotonia
Neuromuscular syndromes
Neuropathies with abnormal myelination
Porphyria
Purines
Spinal muscular atrophy: 5q
Storage inclusions
Tetanus
April 97
ACh & ACh Receptors
Amyloidosis
Anti-AChR antibodies
Endocrine Disorders
FSH dystrophy
Limb-Girdle MD, 2A
Myasthenic syndromes
Myotonic dystrophy
Neuromuscular Clinical Lab
Neuromuscular Disease Center
Neuropathies
  Asymmetric
  Hereditary Motor Sensory
  HIV related
  Immune Demyelinating
  Proximal Sensory
  Toxic
January 97
Ataxias: Dominant; SCA6
Complement in muscle disease
Congenital weakness: Williams-Beuren
Demyelinating PN: Chronic immune
Diabetic neuropathies
Dystrophinopathies
Encephalomyopathies
Episodic muscle weakness
Limb-Girdle Muscular Dystrophy
Motor syndromes: Hereditary
Muscle biopsy
Muscle fiber activity syndromes
Muscle pain
GI disorders
Neuromuscular disease: Patterns
Neuromuscular evaluations
Pain medications
Painful neuropathies
February 97
ALS: Hereditary
Congenital MD
HMSN + CNS or Cranial nerve Δ
Nerve: Proximal motor
Spastic paraparesis: Familial
November 96
Acetylcholine & AChRs
Anti-GM1 antibody testing
Arthrogryposis
CADASIL
Calcium channel disorders
Catecholamines: Molecules & Δ
Drug information link
Fibroblast growth factors
Hereditary ALS
Limb-Girdle muscular dystrophy, Type 2c
Muscle pain
Muscle pathology
 Acid maltase deficiency: Child; Adult
 Amyloid
 Central core disease
 Centronuclear myopathy
 Nemaline rod myopathy
 Type II muscle fiber atrophy
Myoglobinuria/Rhabdomyolysis syndromes
Paroxysmal cerebellar ataxia-2: Dominant
Spinal cord disorders
Spinocerebellar ataxia-2: Dominant
Toxic disorders: Muscle; Nerve
Trophic factors
December 96
Anti-GM1 antibody testing
ATP & related disorders
Autonomic disorders
Basal Lamina: Muscle
Dystrophin & related proteins
Immune demyelinating PN
MNGIE
Pain medications
Axons: Characteristics
Spinal disorders: Infections
Trophic factors
September 96
Acute immune PN
Ataxias: Metabolic
Anti-sulfatide antibody
Barth syndrome
Bethlem myopathy
Contractures
Emery-Dreifuss
GALOP antibody testing
Hereditary motor neuropathy
Hereditary motor sensory PN
Humor
Motor disorders
Myosin & related proteins
Nerve biopsy: Utility
Patient resources
Radial nerve
Respiratory failure
Scapuloperoneal syndromes
Trophic factors
October 96
Anti-GM1 antibody testing
Anti-MAG antibody testing
Brody myopathy
Catecholamines & Syndromes
Congenital muscular dystrophy
VII nerve anatomy & paralysis
Glycogen & glucose disorders
HMSN + CNS or Cranial nerve Δ
Hereditary spinal cord
K+ channel syndromes
Large or prominent muscles
Mitochondrial disorders
Muscle pain
Malignant Hyperthermia
Trophic factors
7/9/96-7/25/96
Antibodies: Connective tissue disorders
Antibodies in Myopathies
Arthrogryposis
Ataxias
   Classification
   Dominant
   Recessive, Congenital & X-linked
Congenital absence of muscles
DNA repeat disorders
Dystrophinopathies
Hereditary motor syndromes
Humor
Ion channel disorders
Macroglossia
Motor syndromes
M-proteins
7/26/96-8/31/96
Acute immune PN
Ataxias: Dominant
Autonomic disorders
Dystrophin-DAG complexes
Hereditary motor sensory PN
Hereditary motor syndromes
HSAN
Immune demyelinating PN
Ion channel disorders
Median nerve
M-proteins
Myasthenia gravis: Diagnosis
Myasthenia Gravis
Myelopathy: Traumatic
Myoglobinuria; Rhabdomyolysis
Snake venom toxins
Spinal cord disorders
Ulnar nerve
6/11/96-6/27/96
Autonomic neuropathies
Childhood onset PN
Congenital MD
Demyelinating neuropathies
Dermatomyositis
Familial spinal cord syndromes
Immune axonal neuropathies
Large muscles
Limb girdle dystrophies
Muscle activity (neural)
Paraneoplastic syndromes
Sensory neuronopathies
Toxic neuropathies
6/28/96-7/8/96
Hereditary motor syndromes
Infections & PN
Ion channel & receptor Δ
Limb girdle dystrophies
Motor syndromes
Muscle fiber activity
Muscle innervation
   Upper extremity
   Lower extremity
Muscle pain
Myasthenic syndromes
Neuromuscular clinical lab
Toxic myopathies
Toxic neuropathies
5/11/96-5/24/96
Dominant ataxias
Dystrophinopathies
Hereditary motor-sensory neuropathies
Limb-Girdle MD
Mitochondrial syndromes
Myokymia & fiber activity
Myopathy & cardiac Δ
5/25/96-6/10/96
Autonomic disorders
Demyelinating neuropathies
DAG
Episodic muscle weakness
HMSN + focally folded myelin
Limb girdle syndromes
Muscle fiber activity
Toxic neuropathies
X-linked centronuclear myopathy
4/21/96-5/1/96
Aldolase A deficiency
Anti-sulfatide antibodies: Guidelines
Ataxic & Large Fiber PNs
GI disorders & Neuropathy
Hereditary Sensory PN
Scapuloperoneal syndromes
5/2/96-5/10/96
Atrophy, type 2 muscle fibers
Dominant Ataxias
BJ antibodies & Myopathy
Branching Enzyme Deficiency
Cardiomyopathy + Myopathy
Hereditary Sensory Neuropathy
Myasthenic Syndromes
PROMM
Toxic Myopathies
3/19/96 - 4/5/96
Acute quadriplegic myopathies
Andermann Syndrome
Baltic myoclonus
Barth syndrome
Bethlem myopathy
Neuropathies
   Chronic immune demyelinating
Hereditary Motor:
   HDUMMA & with cataracts
HMSN: I X-linked & II
Limb-Girdle Muscular Dystrophy
Malignant hyperthermia
Monoclonal antibodies (M-protein)
Vitamin disorders
4/6/96-4/20/96
Congenital weakness
Joint Contractures
Muscle fiber activity & cramps
Myoglobinuria
PEO
Neuropathy + Myopathy
3/3/96 -3/10/96
Distal Myopathies
Granulomatous Myopathy
HNPP
Infections & Myelopathy
Sporadic ALS
Stiffman Syndrome
Tubular Aggregates
3/11/96 - 3/18/96
Amyloidosis
Autonomic Disorders
Botulism
CDG
Diabetic Neuropathy
Friedreich Ataxia
Infections & Neuropathy
Respiratory failure
Tetanus
2/12/96 -2/25/96
Childhood-onset Neuropathy
Cytoplasmic body myopathy (distal)
Inflammatory Myopathies
Large Muscles
Muscle Fiber Activity & Cramps
Nerve Biopsy (Indications)
2/25/96 - 3/2/96
Brachial Plexopathy
Distal Myopathies
Hyperekplexia
Infections & Myelopathy
Optic Neuropathy & HMSN
Post-polio Syndrome
Spinal Muscular Atrophies
Sporadic ALS
Stiffman Syndrome
Tubular Aggregates
1/27/96 - 2/2/96
Dominant Ataxias
Dystrophin-Glycoprotein complexes
Encephalomyopathy
Hereditary Spinal Cord Δ
Metabolic Ataxias
Porphyria
2/3/96 - 2/11/96
Cytoplasmic body myopathies
HNPP
HSN
Hereditary SMA
Mitochondrial Syndromes
Paraspinous weak & Bent spine
Dystonia 9
1/6/96 - 1/15/96
Dystrophin gene testing
Ion Channel Disorders
Möbius Syndrome
Vasculitis
X-linked HMSN
1/16/96 -1/26/96
Botulism
Deafness & NM disorders
Large Muscles
Muscle Fiber Activity & Cramps
SDH & mitochondrial disorders
Thymoma & Myasthenia


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2/14/2024