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Differential diagnosis
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New
or newly revised
A
A-wave
AAA syndrome
α-Actinin
AAMR
AARS
AARS2
Aarskog–Scott
ABAT
Abattoir
ABC
ABCC9
ABCD1
ABCD3
αB-crystallin
Abdominal muscles
ABHD5
ABHD12
ABHD16A
A-β-lipoproteinemia
Absent muscles
ACAD
ACAD9
ACADS
ACADVL
Acanthosis Nigricans
Acetylcholine
Acetylcholine Receptor
Antibodies
Disorders
Epsilon subunit
Molecules
Myasthenia Gravis
Acetylcholinesterase
Achalasia
Achondroplasia
ACh Receptors
Acid ceramidase
Acid Maltase
Aconitase 2
(ACO2)
ACOX1
Acromegaly
Acromutilation
Acrylamide
ACTA1
ACTG2
Actin
Actinin
Activation
ACTN2
ACTN3
Acute
Immune neuropathies
Motor Neuropathy
Myopathy
Neuropathy
Quadriplegic myopathy
Weakness
Acylcarnitine
Acyl-CoA dehydrogenase
Hydroxy
Long chain
Medium chain
Very long chain
Multiple deficiency
ADAMTS15
ADCK:
2
;
3
;
4
Adductor
Adenosine
Deaminase 2 (ADA2)
Receptors
Adhalin
Adhesion molecules
Adie
ADLD
ADOAC
ADPRHL2
Adrenal
Adrenomyeloneuropathy
ADSSL1
α-Dystroglycan
Disorders
α-Fetoprotein
AFG3L2
α-galactosidase
AGAT
Age:
Muscle
;
Nerve
AGK
Agrin
AGTPBP1
AHNAK2
AIAW
AIFM1
AIN
AIRE
Alacrimia
Alanine-repeat disorders
ALCL
Alcoholic (Ethanol) neuropathy
ALDH3A2
ALDH5A1
Aldolase A deficiency
Alexander disease
Adult onset
Mitochondrial
ALG2
ALG14
Allgrove syndrome
Allodynia
All-
Trans
-Retinoic Acid
Allyl chloride
Alpers-Huttenlocher
α-Methylacyl-CoA racemase
Almitrine neuropathy
Alpers
ALPK3
ALS
ALS Association
Alsin
ALS-PD
AMACR
AMAN
AMFR
Aminoacyl-tRNA synthetase
Antibodies
Cytoplasmic
Mitochondrial
e
-Amino Caproic Acid
Amiodarone neuropathy
Ammonia
AMPDA deficiency
Amphiphysin
Amphiphysin 2
Amyloidosis
Amyotrophic Lateral Sclerosis
Hereditary
Sporadic
ANA
An-α-lipoproteinemia
ANCA
Andermann Syndrome
Andersen disease
Andersen periodic paralysis
Androgen Receptor
Anemia
Angiogenin
Angiotropic lymphoma
Anhidrosis
Anion exchangers
Ankylosing spondylitis
ANO5
ANO10
Anterior interosseus nerve
Anterior primary rami
Antibodies
Acetylcholine Receptor
CNS
Connective tissue disease
Decorin (BJ)
Glutamic acid decarboxylase
GM1 Ganglioside
Hu
Jo-1
MAG
M-protein
Monoclonal
Muscle
Nerve
Polymyositis
Polyspecific
Striational (Muscle)
Sulfatide
tRNA Synthetase
Tubulin
Yo
Antibody testing
Requisition Form
Instructions
ANXA11
AOA
AP1S1
AP4 proteins
Apamin
APECED
APOA1
APOO
Apoptosis
Congenital myopathy
Aquporin-4 (AQP4)
Arachnoiditis
Argininemia
Argininosuccinate lyase
Arm predominance
Myopathy
Neuropathy
Arnold-Chiari Malformation
Aromatase inhibitor
ARPP21
ARS
Antibodies
Cytoplasmic
Mitochondrial
ARSA
ARSACS
Arsenic
Arthrogryposis
Artery
Arts
ARV1
ARVD
ASAH1
ASC1
ASCC1
ASL
Asymmetry
Neuropathies
Myopathies
ATAD3A
Ataxias
Ataxia Telangectasia
Ataxia Telangectasia-like
Autosomal Dominant
Autosomal Recessive
Congenital
DNA repair defects
Episodic
Metabolic disorders
Multisystem disorders
SCA
Sensory
Treatments
X-linked
Atcay
ATG5
ATG7
Athletes
Disorders
Genetics
ATITHS
ATL3
Atlanto-Axial instability
α-tocopherol transfer protein
ATP
ATP1A1
ATP1A2
ATP1A3
ATP5F1B
ATP5F1D
ATP5MC3
ATP5MD
ATP6AP2
ATP8A2
ATP13A2
ATPase 6
ATPase
Disorders
Stain:
A
;
B
Atrial septal defect
Atrophy, type 2 muscle fibers
ATTP
ATXN
1
;
2
;
3
ATXN8OS
ATXPC
Autonomic Disorders
Syndromes
Cardiac
Sweating
Hypotension
Urinary
Sexual
Ocular
Parasympathetic
Sympathetic
Autophagy
Differential diagnosis
Excessive
General features
Pathology
AVED
AVSF
Pathology
Axenfeld-Rieger anomaly
Axillary nerve
Axon reflex
Axonal
Damage or Loss
Neuropathies - Immune
Transport
Axons: Characteristics
Azathioprine
AZT myopathy
B
B1
B
12
, vitamin
B3GALNT2
B3GNT1
B4GALNT1
B6
BACM
BAG3
Bailey-Bloch
Baltic myoclonus
BANF1
Bariatric surgery
Barium
Barnes's myopathy
Barth syndrome
Basal Lamina: Muscle
Baseball
Basement membrane
Batten disease
Baxter's nerve
BCIM
BCS1L
Becker Muscular Dystrophy
Becker Myotonia
Bee stings
Behçet
Behr syndrome
Bell's Palsy
Benign acute childhood myositis
β-Enolase
Bent spine syndrome
Benznidazole
BET1
Bethlem myopathy
β-galactosidase
BIBARS
BICD2
Biceps
Bickerstaff brainstem encephalitis
Biemond Congenital Anesthesia
Bilbao & Schmidt
Text
Index
BIN1
Biochemical-genetic testing
Biopsy
Muscle
Nerve
Pictures
Quiz
Results: Differential diagnosis
Biotin
Biotinidase deficiency
BJ (Decorin) antibodies & myopathy
Birk Barel
(KIS)
Björnstad syndrome
Black widow spider toxin
Blepharophimosis
BLOBs
Blood-Nerve Barrier
Bodybuilding
Bone morphogenetic proteins
(BMP)
Bortezomib
(Velcade)
Botulism
Boucher-Neuhäuser
Brachial Amyotrophic Diplegia
Brachial Plexopathy
Brachial plexus: Innervation
BRAF
Branching Enzyme
Brachio-Cervical Inflammatory Myopathy
Pathology
Brachioradial Pruritis
BRAT1
Brentuximab
Broad A-band disease
Brody Disease
1-Bromopropane (n-propyl bromide)
Brown-Vialetto-van Laere
(BVVLS)
Brucellosis
Brugada
BSCL2
BSMA (X-linked)
BTD
Buckthorn
Bulbar weakness
Bulbospinal Neuronopathy (X-linked)
Bungarotoxins:
α
;
β
;
κ
Büngner Bands
Burner
Burning mouth syndrome
Burning feet syndrome
Burns & neuropathy
BVES
C
C1-C2 instability
c1orf194
c2orf69
c9orf72
c19orf12
c19orf79
c20orf7
CA8
Cabezas
Cachexia
CACNA1A
CACNA1C
CACNA1G
CACNA1H
CACNA1S
CADASIL (Multi-infarct dementia)
Cadherins
CADM-140
CADM3
Cadmium
CAGSSS
Calcaneal nerves
Calcinosis
Calciphylaxis
Calcium Channels
Antibodies
Disorders
Calmodulin
(CALM):
1
,
2
,
3
Calpain:
1
;
3
Calsequestrin-11
Camera-Marugo-Cohen Syndrome
Camptocormia
CAMRQ
CAMTA1
Camurati-Engelmann
CANOMAD
CANVAS
Cap myopathy
CAP2
Capillaries
CAPOS syndrome
CAPRIN1
Carbohydrate
Deficient Glycoproteins
Carbon disulphide
CARDAR
Cardiac Disorders
+ Myopathy
Heart only; Hereditary
Cardiofaciocutaneous 1
(CFC)
Cardiolipin
Cardiomyopathy
Dilated
Hypertrophic
Mitochondrial
Carey-Fineman-Ziter (CFZ)
1
,
2
Carnitine
Carnitine-acylcarnitine translocase
Carnitine palmitoyltransferase II
Carpal tunnel syndrome
Cartilage-Hair hypoplasia
CASK
Caspr
Antibody
Caspr2
CASQ1
Cataract & Facial disorder: HMSN
Catecholamines
Cathepsin D
Cavanagh's sensory neuropathy
Caveolae
Caveolin-3
Cavin-1
Cavin-4
CAVIPMR
Cayman ataxia
cblC
CCDD
CCFDN
CCHS
CCNF
CCPD
CCT5
CD59
CDG
CEDNIK
Celiac disease
CEMCOX
Central Core
Central European encephalitis
Central hypoventilation
Central Nervous System (CNS) + ...
Myopathy
Neuropathy
Centromere antibodies
Centronuclear Myopathy
CEP55
CEP290
Cerebellotrigeminal Dermal
Cerebellum
Cerebral palsy
Ataxic
Spastic quadriplegic
Symmetric
Cerebrotendinous Xanthomatosis
Cervical anatomy
CFEOM
CGI58
Chagas'
Chanarin-Dorfman
Channel Disorders (Ion)
Chaperones
Charcot joints
Charcot-Marie-Tooth (CMT)
Charlevoix-Saguenay
Andermann Syndrome
Charlevoix-Saguenay syndrome
Spastic Ataxias
CHCHD10
Checkpoint inhibitors
Chediak-Higashi
CHEGDD
Chikungunya
CHILD syndrome
Childhood-onset
Myopathy
Neuropathy
CHIP
CHKB
Chloramphenicol
Chloride Channels
Disorders
Chloroquine
Chlorophenoxy toxicity
Cholesterol emboli
Chondroitin sulfate C myopathy
Chorea-Acanthocytosis
CHP1
Christianson
Chronic Fatigue Syndrome
Chronic Immune Demyelinating PN
Churg-Strauss
CIAO1
CIDP
Ciguatoxin
CIMDAG
CIPO
CISD2
cis
-platinum neuropathy
CISP
CISS
CK
CLCN
Cleidocranial dysplasia
Clevudine
CLN3
Club foot
CMH
CMT
CMYO
CMYP
CNBP
CNS antibody
CNTN1
CNTNAP1
COA7
COACH syndrome
COASY
Cobalt
Cocaine
Cockayne syndrome:
A
;
B
,
ERCC1
CODAS
Coenzyme Q10
Ataxia
Deficiency
(COQ10D)
Coffin-Lowry
Cofilin-2
(CFL2)
Colchicine
Myopathy
Neuropathy
Cold
Agglutinin disease
Allodynia
Induced sweating
:
1
;
2
Related neuropathy
Sensation
Collagen
Type IV
Type VI
Bethlem
OPLL
Ullrich
Type IX
Type XII
Type 13A1
Collagen bulbs
Collagen pockets
Collagen vascular diseases
Collateral sprouts
ColQ
Common peroneal nerve
COMNB
COMP
Compartment syndromes
Complement
Complex regional pain syndrome
Complex repetitive discharges
CONDCA
CONDSIAS
Conduction Block
Congenital
Disorders of
Deglycosylation
Glycosylation
Fiber type
Disorders
1 atrophy
2 atrophy
Hypomyelinating Neuropathy
Insensitivity to pain
Muscle absence
Muscular Dystrophy
Myopathy
Neuropathy
Congenital myopathy with apoptosis
Congenital Sensory PN + Anhydrosis
Connective tissue diseases: Immune
Connective tissue molecules
Connexin-31
Connexin-32
CONRIBA
Contactin-1
Antibody
Contractures
Lethal congenital
COPD
Copper deficiency & disorders
COQ
COQ2
COQ4
COQ7
Cores
Cores + Rods
Cortactin
Corticosteroid
Disorders
Treatment
Cough
Cowchock Syndrome
Cowden
COVID-19
COX:
4I1
;
4I2
;
5A
;
6A1
;
6A2
;
7B
;
8A
;
10
;
11
;
15
;
16
;
18
;
20
;
FA4
COXPD
CPEO
CPLANE1
CPSQ
CPT II
Cramps
Cramp-Fasciculation
Cramp & Neuropathy syndrome
Cranial Nerve Disorders
Creatine deficiency
Creatine Kinase
Low
Unexpectedly High
Very High
Creatine treatment
CREST
Creutzfeldt-Jakob
Crisponi syndrome
Critical illness myopathy
Critical illness polyneuropathy
CRLS1
CRMP-5 syndromes
Crohn's disease
CRYAB
Cryoglobulins
Cryptococcus
CSPP1
CSPQ
CTBP1
CTSD
Cuban neuropathy
Cushing syndrome
CV-2
Cyanide
CYC1
Cyclin-F
Cyclophosphamide
Indications - Motor Neuropathies
Orders, IV
Protocol
Treatment
Cyclophosphamide + Plasma Exchange
Cyclosporine
Myopathies
Treatment
CYLD
Cylindrical spirals
CYP
CYP7B1
Cytochrome oxidase deficiency
Benign Infantile Myopathy
Fatal Infantile Myopathy
Leigh Syndrome
Cystinosis
Cytokines
Cytomegalovirus
Cytoplasmic body myopathies
Distal
D
DAG1
Dandy-Walker
Danon disease (LAMP-2)
Dapsone neuropathy
Davidenkow
D-bifunctional protein
(DBP)
DCAF8
DCC
DCIDP
DCTN1
d4T neuropathy
ddC neuropathy
DDHD1
DDHD2
ddI neuropathy
Deafness
Achondroplasia
Connexin-26
Dystonia
Hereditary Neuropathies
Mitochondrial
Morquio
Myosin: Unconventional
Debranching Enzyme
Decorin antibodies & myopathy
DEEAH
Degradation: Protein
Dejerine-Sottas
Delayed onset muscle soreness (DOMS)
Deltoid
Demyelinating Neuropathies
Differential Diagnosis
Immune
Dengue
Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Dermatologic changes
Dermatomyopathies
Dermatomyositis
desert hedgehog
Desmin myopathies
Cardiac Failure
Myofibrillar myopathies
Respiratory Failure
Desmoplakin
DGUOK
DHH
DHPR
DHTKD1
DHX9
DHX16
Diabetes
Mitochondrial
Muscle infarction
Neuropathy
T1D
T2D
3,4-Diaminopyridine
Diaphragm, Congenital defects
Diaphyseal Dysplasia
20,25-Diazacholesterol
Diethylene glycol
Differential diagnosis
Cerebellar
Muscle biopsy
Myopathy
Neuropathy
Spinal
Syndromes
Digenic
DILS
Dimethylamine Borane
Dimethylaminopropionitrile
Dinitrophenol
Dioxins
Diphtheria
Disc disease
Disclaimer
Distal Myopathies
Distal SMA
(HMN)
Distal Ulnar-Median Muscular Atrophy
Disulfiram neuropathy
DLAT
DM1
DM2
DM3: See
IBMPFD
DMAPN
DMPK
DM-VP
DNA
Repair & Replication disorders
Repeat disorders
DNA2
DNAJ
B2
;
B4
B5
;
B6
C3
;
C7
;
C19
;
C30
DNM1L
DNM2
DNMT1
DNMT3A
DNMT3B
Docetaxel
Dok-7
DOLK
DOMS
Dopamine
Dopamine β-hydroxylase
Dopamine receptor D4
Dorsal scapular nerve
Doxorubicin
DPAGT1
DPM:
1
,
2
,
3
DPPX
Dravet
DRP1
DRP2
Drug-induced neuropathies
Drugs: Immunomodulation
dsDNA antibody
DST
DTNA
DTNBP1
DTR
Duane's syndrome
Duchenne Muscular Dystrophy
Dusty core
DUX4
Dyggve-Melchior-Clausen disease
Dynactin
Dynamin
Dynamin 2
Related Disorders
DYNC1H1
Dynein
Dysautonomia
Dysferlin
Dysphagia
Dysthyroid ophthalmopathy
Dystonia-Spasticity
Dystonin
Dystrobrevin
Dystroglycan
α-Dystroglycan disorders
Dystrophinopathies
Gene
Protein
Dystrophin-associated Glycoproteins
E
E3 ubiquitin ligase
e
-Amino Caproic Acid
Early Growth response (EGR) genes
EBF3
EBP50
ECEL1
ECHS1
Ectopic lymphoid structures
Eculizumab
Edaravone
EDMD
EDNRB
EGPA
EGR2
EHBP1L1
Ehlers-Danlos
Hypermobile
eIF2B
EJ antibody
Electron transport flavoprotein (ETF)
Elejalde
ELOVL1
ELOVL4
ELP1
(IKBKAP)
EMARDD
EMC1
Emery-Dreifuss Dystrophies
Emetine
EMILIN-1
EMPF
EN1
Encephalomyopathy
Endocrine
ENDOG
Endoneurium
Microvessels
Endoplasmic reticulum:
Disorders
ENDOVE
Endplate spikes
β-Enolase
Enterovirus:
D68
;
71
,
IMPP
EOMES
EORVA
Eosinophilia-myalgia syndrome
Eosinophilic fasciitis
Eosinophils
Epidermal growth factors
Epidermolysis Bullosa & Congenital MD
Epinephrine
Epineurium
Epiphyseal dysplasia + Myopathy
(EDM3)
Episodic
Ataxia
Ataxia/Myokymia Syndrome
Pain
Weakness
EPT1
Erabutoxin
ERAD disorders
ERBB2
ERBB3
ERBB4
ERBBR
Erb's palsy
ERCC1
Erdheim-Chester
ERGIC1
ERLIN1
ERLIN2
Erythromelalgia
(Erythermalgia)
Escobar
ETFA
ETFB
ETFDH
Ethambutol neuropathy
Ethanol:
Myopathy
;
Neuropathy
ETHE1
Ethionamide neuropathy
Ethylene glycol
Ethylene oxide
Etoposide
Evaluation of neuromuscular disease: Guidelines
Excessive Autophagy
Excitation-Contraction
Exercise
Genetics
Intolerance
EXOC2
EXOC8
Exosome
(EXOSC)
External Links
Extra-ocular muscle weakness
Congenital fibrosis
F
F-wave
FAAH
Fabry
Facial
Bell's Palsy
with myopathy
Nerve
Facioscapulohumeral Dystrophy
FADS
FAM111B
FAM134B
FAM149B1
FAR1
FARAD
Farber lipogranulomatosis
Fasciculations
Fasciitis
FASTKD2
Fatigue
Chronic
Differential Dx
Fatty acid
Amide hydrolase
Oxidation
Synthesis
Transport
Fazio-Londe
FBN2
FBXL4
FBXO38
FDX1L (FDX2)
FDXR
Femoral nerve
FEPS
:
1
;
2
;
3
,
4
Fe-S
Fetal Akinesia
FEWDON
FGD4
FGF14
FGFR3:
Antibody
;
Protein
FHL
FHL1
FHOD3
Fiber type
Disorders
1 small
1 predominance
2 small
Size disproportion
Properties
Fibrillation
Fibroblast growth factors
Receptor-3
Achondroplasia
Antibody
Fibromyalgia
Fibrosing myopathy: Focal
Fibrosis of EOM
FICD
FIG4
Filamin A
Filamin C
FILIP1
Finger extension
Fingerprint body
Finnish encephalopathy
Finger extension
FITM2
FKRP
FKTN
FLAD1
Flecanide
Flier's Syndrome
FLNC
Fludarabine
FLVCR1
FMR1
Focal
Fibrosing myopathy
Myositis
Focally folded myelin
Folate
FOP
FOSMN
FOXRED1
Freezing muscle: Methods
Frey
Friedreich Ataxia
Frohse
FSH dystrophy
FSP
Fukuyama congenital MD
Fumarate hydratase
FUS
FXTAS
FXR1
FYCO1
G
G6PD
GAD antibodies
Galactosamine sulfatase
Galactosidase:
α
;
β
GALOP Syndrome
Galoway-Mowat
(GAMOS)
GAMOS1
GAN
Gangliosides & Glycolipids
Antibodies
Gap junctions
GARS
Gasoline Neuropathy
Gastric bypass
Gastrointestinal
Gastric bypass
Myopathy
Neuropathy
GATA2
GATAD1
GATB
GATC
Gaze palsy:
1
;
2
GBE1
GBF1
GBS
GCSH
GDAP1
GDAP2
Gelsolin
Gemcitabine
GEMIN5
Gene panels
Germanium myopathy
Gerstmann-Straüssler-Schienker
GFAP
GFER
GFM2
GFPT1
GGPS1
Giant cell myositis
Gillespie
GIPC1
GJB1
GJC2
GLE1
γ-Glutamyl Cysteine Synthetase
Giant Axonal Neuropathy
Gillespie
Gitelman
Gliomedin
(GLDN)
Globoid leukodystrophy
GLRX5
GLT8D1
Glucose tolerance
Glue Neuropathy
GLUT1
Glutamic acid decarboxylase
Glutaminase
Glutaredoxin 5
Glutaricaciduria IIA
Glutei
Gluten enteropathy
Glutethimide neuropathy
Glycine
Glycine receptors
Glycogen
Pathways
Storage Disorders
Glycogen Branching Enzyme
Glycogen synthase
Glycogenin-1
Glycosylation
Deficiency
Disorders
Muscle-Eye-Brain syndromes
GM1
Antibodies
Ganglioside
MMN
GM2 gangliosidosis
GMPPA
GMPPB
GMPR
GNB4
GNE
Gold neuropathy
Goldberg-Shprintzen
GOLGA2
Golgi
Gomez-Lopez-Hernandez
(GLHS)
GON7
Gonadal dysgenesis
Ataxia
HSN
;
HMSN
Gordon Holmes:
1
;
2
GOSR2
Gossypol
Gowers distal myopathy
GQ1b
GRACILE syndrome
Gracilis
Graft-vs-host
Granulomatous Myopathy
GRID2
GRIK2
Griscelli
1
2
GRM1 (mGluR1)
GRN
GTDC2
Guillain-Barré
Gustatory Sweating
Guyon canal
Gynecomastia
H
4H
H-reflex
HACD1
HACE1
HADDS
HADHA
HADHB
Haff disease
Hamstring
Injury
Weakness
HANAC
Hand weakness (pure motor)
Harlequin syndrome
HARS1
Haw River Syndrome
HCCS
HCN
Head Deviation
Hearing loss
Heat
:
Channels
HEATR5B
Heat shock proteins
Helix syndrome
Hematology
Hemifacial spasm
Hemochromatosis
Hemophagocytosis
Hemophagocytic lymphohistiocytosis
Hemophilia
Hemosiderin
Heparan sulfate
Heparin-binding growth factors
Hepatic disease
Hepatitis C
Hepatitis E
Hereditary
Ataxias
Liability to Pressure Palsies
Distal Ulnar-Median Muscular Atrophy
Motor Syndromes
Motor-Sensory Neuropathies
IA
;
IB
;
IX
;
II
;
III
;
4A
Focally folded myelin sheaths
Sensory > Motor + Ulcero-mutilation
Myopathies
Sensory Neuropathy
I
,
II
,
III
,
IV
Large Fiber
Large + Small Fiber
Small Fiber
With spasticity
Spinal Cord Syndromes
Heroin
Herpes Zoster
Hexachlorophene
Hexacarbons
Hexagonally cross-linked crystalloid inclusions
Hexokinase 1
Hexosaminidase A
HGPPS:
1
;
2
HHH Syndrome
HIBCH
HIBM
HIDEA
Hidrosis
HIEM
HINT1
Hirayama
Hirschsprung's
Histiocytes
Histiocytoid cardiomyopathy
Histochemistry
Methods
Histoplasmosis
HIV
HK1
HLA: Disease associations
Myasthenia gravis
Myositis
HLD:
7
,
8
,
11
,
21
HMERF
HMG-CoA Reductase (HMGCR)
Antibodies
Inhibitors
Myopathy
HMGCS1
HMGCS2
HMN
(Distal SMA)
HMSN
HMSN-Russe (HMSNR)
HNA
HNPP
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRP
Hoarse voice
Holmes-Adie syndrome
Holmes Ataxia
Holt-Oram
Horner's syndrome
Hoyeraal-Hreidarsson
HPDL
HSAN
HSD17B4
HSD17B10
(HSD10)
HSF1
HSP
HSPB1
HSPB3
HSPB5
HSPB8
HTLV-1
HTRA2
HTT
Hu
Human immune globulin
Human Immunodeficiency Virus (HIV)
HUMOP2
Humor
Huntington
Hurler
Hyaline body myopathy
Hydralazine neuropathy
Hydroxychloroquine
Hydroxyglutaric aciduria
D-2 & L-2
L-2
Hydroxyurea
Hymenoptera venom
Hyperekplexia
Hyperexcitability
Nerve
Hyperhidrosis
Hyperkalemic Periodic Paralysis
Hypermobility, Joint
Hyperornithinemia-Hyperammonemia-Homocitrullinuria
Hypertrophy, Muscle
Hypoglycemia + Neuropathy
Hypogonadism
+ Ataxia
Hypokalemic Periodic Paralysis
Hypomyelinating neuropathies
Hypotension
Hypouricemia
Hypoventilation, Central
I
IBA57
IBM
IBMPFD
sIBM
Ichthyosiform erythroderma
ICI
IDUA
IFIH1
Idiopathic neuropathy
Ifosfamide neuropathy
IFT74
IgG
4
IGHMBP2
IgM MGUS
IKSHD
Illustrations: Index
IMAM
Imatinib
Imidacloprid
IMMT
Immune disorders:
Treatment strategies
Immunoglobulin Superfamily
Immunomodulating therapies
IMPP
IM-VAMP
Inability to experience pain
Inclusion Body Myopathy
(Hereditary)
Dominant:
IBM1
;
IBM3
;
IBMPFD
Recessive:
IBM2
+ Paget
Types
Inclusion Body Myositis
Inclusions
INF2
Infantile
Myopathy
Neuropathy
Infantile Onset Spinocerebellar Ataxia (IOSCA)
Infarction, Diabetic Muscle
Infections
Myelopathy
Neuropathy
Inflammatory bowel disease
Inflammatory Myopathies
Influenza
IMAM
Injections & Myopathy
INPP5K
INSC
Insensitivity to Pain
Insulin-like growth factors
Insulinoma + Neuropathy
Integrins
Integrin α7
Intensive care (Critical illness) neuropathy
Interferon-α
: Neuropathy
Intermediate filament disorders
Interstitial lung disease
Intravascular lymphoma
Intravenous immunoglobulin
Ion Channel Disorders
General concepts
Ipecac
Ipilimumab
IPEX
IRF2BPL
Iron
Iron-Sulfur complex
Isaac's Syndrome
ISCU
Isoniazid neuropathy
Isotretinoin
ISPD
Itch
ITGA7
ITP
ITPR2
ITPR3
Ixabepilone
J
JAG1
JAG2
Jensen syndrome
JMP syndrome
Jo-1
Myopathy
Joint
Contractures
Hypermobility
Joubert syndromes
Journal Club
Junctophilin 1
(JPH1)
K
Kaeser
Kallman syndrome:
2
;
6
;
Deafness
KANK1
KARS
KBTBD13
KCN
KCNK9
(KIS)
Kearns-Sayre
Kelch (KLHL) disorders
Kennedy pathway
Kennedy's Syndrome
KIDINS220
KIF disorders
KIF1A
KIF5A
KIF26B
KIFBP
Kinesins
King-Denborough
KLHL9
KLHL16
KLHL24
KLHL40
KLHL41
Klippel-Feil
Klippel-Trenaunay-Weber
KMT2B
Köbberling-Dunnigan Syndrome
Konzo
KPNA3
Krabbe
Ku antibody
Ky
L
L1CAM
L-2 Hydroxyglutaric aciduria (L2HGA)
L2HGDH
Laboratory
Antibody tests
Certification
Pathology (Muscle & Nerve) tests
Lactate
Lactate dehydrogenase, M (muscle) subunit
Lafora disease
LAGE3
Laing
Lambert-Eaton Syndrome
Lamin
Disorders
Lamin A/C
Lamin B1
Laminins
α2
(LAMA2)
α4
β2
LAMP-2
LAP1
LARGE
Large
Muscles
Nerves
LAS1L
Lateral femoral cutaneous nerve
Latrotoxin
LBD3
LBSL
LBX1
LC3
LCAD
LCCS
LCHADD
LDB3
LDHA
Lead
Leber's Optic Atrophy
Leflunomide
Leigh Syndrome
LEMS
Leprosy
Leptospirosis
Lethal congenital contracture
Lethal congenital myopathy
LETM1
Leukodystrophy
Leukoencephalopathy
Lewis-Sumner
Lgi1
Lgi3
Lgi4
LGMD
LHIM
LHN
LHON
Licorice
Lidocaine
LIG3
Ligament of Struthers
Limb-Girdle Muscular Dystrophy
Linezolid
Links
Lipid
Disorders
Carnitine
Classification
(Biochemical)
Droplet
Droplet-ER contact
Myopathies
Storage disorders
Lowering agents
Lipin-1
Lipodystrophy
Acquired
Hereditary
Syndromes
Lipoic acid
Lipomatosis
LITAF
Lithium
Livedoid vasculopathy
LIWAS
LMNB1
LMOD3
Loeys-Dietz
Long QT Syndromes
K+ Channel
Na+ Channel Disorders
Long thoracic nerve
LONP1
Lower Motor Neuron syndromes
LRIF1
LRP4
LRP10
LRP12
LRPPRC
LRSAM1
Lumbar plexus
Lumbosacral plexus
Lumbosacral plexopathies
Lung disease, Interstitial
Lupus
Lyme disease
Lymphoma
Intravascular
LYRM4
LYRM7
Lysosome
M
Ma
MACF1
Machado-Joseph
Macroglossia
Macrophages
Macrophage activation
Macrophagic myofasciitis
MADD
Protein
Syndrome
Madelung syndrome
Madras motor neuron disease
MADSAM
MAG
MAGEL2
Magnesium
Malignant Hyperthermia
Malignant PN Sheath tumors
MAMDC2
MAP3K20
MAPK8IP3
Maple syrup urine disease
MAPT
Marine toxins
Marinesco-Sjögren
Markesbery
Martin-Gruber anastomosis
MASA Syndrome
MASNS
Mast cells
MAST1
Masticator myopathy
Matrin-3
MB
MBP
MCAD
M-cadherin
McArdle disease
MCAT
McLeod Syndrome
MC_DN
MC3DN
MCM3AP
MDA-5
(CADM-140) antibody
MDCCAID
MDDG
MDDGA
MDH2
Mechanotransduction
MECP2 protein
MECR
Medial brachial fascial compartment
Median nerve
MEDNIK
MEF2 family
MED17
MED27
Megaconial
Immune
MEGCANN
MEGDEL
MEGF10
MELAS
Melkersson-Rosenthal syndrome
MEOAL
MEOX2
Meralgia paresthetica
Mercury
Merosin:
Deficient
;
Abnormal
MERRF
MET
Metabolic syndrome
Metachromatic Leukodystrophy
Methotrexate
Methyl bromide
5,10 Methylenetetrahydrofolate Reductase
3-Methylglutaconic acid
(3-MGA; 3-MGCA)
Metronidazole neuropathy
MFF
MFM
MFN2
mGluR1
MGT-30
MGUS
IgM
MHC-I
Mi-2 antibody
MIC26
MICOS
MICOS10
MICOS13
Microscopic polyangiitis
(MPA)
MICU1
MICU2
Midkine
MIEF1
MIEF2
Migrant sensory neuritis
Miller Fisher
Mills syndrome
Miniature endplate potential
Minicore myopathy
Minifascicles:
HSN
;
HMSN
Minipolymyoclonus
MINPP1
MIRAS
Misonidazole neuropathy
Mitchell
Disease
Syndrome
Mitochondria
Antibodies
Complexes
Disorders
DNA breakage
Pathology
Ribosomal proteins (MRP)
Mitofilin
Mitofusin 2
Mitoribosome
Miyoshi distal myopathy
Mixed Connective Tissue Disease
MLASA
MLIP
MLKL
MMACHC
MMCKR
MMDS
MME
MMN
Mnf
(FOXK1)
MNGIE
Möbius Syndrome
MODY
MOG
Mohr-Tranebjaerg syndrome
Molecules
Monensin
Monoclonal Antibodies (M-proteins)
Monomelic Amyotrophy
Mononeuritis multiplex
MORC2
Morquio
Morvan's fibrillary chorea
Motor
Neuropathies
Syndromes
Hereditary
Units
Mowat-Wilson
Mountain sickness
Mox2
MPAN
MPC1
MPD
MPP1
M-proteins
MPV17
MPZ
MRI, Muscle patterns
MRM2
MRP proteins
MSCAE
MSTO1
Msx1
MT-ATP:
Disorders
,
Proteins
MTCO proteins
mtDNA
mtDNA depletion
MTDPS
MTHFR
MTM1
MTMR2
MTMR13
MTND
MTPAP
MTPD:
1
;
2
mtRNA
mt-RNase P complex
MTT*
Mucolipidosis IV
Mucolipin
Mulibrey Nanism
Multicore myopathy
Multifocal Motor Neuropathy
Multi-Infarct dementia
Multiple acyl–CoA dehydrogenase (MADD)
Multiple Endocrine Neoplasia
Multiple Epiphyseal Dysplasia
(MED)
Multiple Symmetric Lipomatosis
Multiple Myeloma
Multiple Systems Atrophy
Multisystem proteinopathy
(MSP)
Murf1
Muscle
Absence (Congenital)
Basal lamina
Biopsy
Biopsy stains
Development
Fiber
Activity
Normal
Sizes
Hypertrophy
Infarction: Diabetic
Innervation
Upper extremity
Lower extremity
Nuclei
Muscle
Disorders
Pain
Spindle
Structural Proteins
Muscle-Eye-Brain Disease
Muscular Dystrophy
Muscular Dystrophy Association
Musculocutaneous nerve
Mushroom intoxication
Musicians
MuSK antibodies & MG
Muzolimine
Myalgia
Myasthenia Gravis
Associated disorders
Autoimmune
Syndromes
Myasthenic Syndromes
Lambert-Eaton
MYBPC1
MYBPC3
Mycophenolate mofetil
Mycoplasma pneumoniae
Myelin
Pathology
Pathology features
Myelin-Associated Glycoprotein (MAG)
Myelin Basic Protein
(MBP)
Myelination: PN with abnormal
Myelocerebellar
Myeloma
Myelopathies
Myf5
Myf-6
MYH
MYH1
MYH2
MYH3
MYH7
Gowers distal myopathy
Hyaline body
MYH11
MYH14
Myhre Syndrome
MYL1
MYL2
MYLPF
MYMK
MYO18B
Myoadenylate deaminase deficiency
MyoD
Myoedema
Myofibrillar (Desmin) myopathies
Myogenesis
Myogenic determination factors
Myogenin
(Myf4)
Myoglobin
Myoglobinuria
Myokines
Myokymia
Differential diagnosis
Myomaker
Myomixer
Myopalladin
(MYPN)
Myopathy
Differential Diagnosis
with Neuropathy
Syndromes
Myosclerosis
Myosin
Binding protein
(MYBPC)
Cardiomyopathies
Deficiency Myopathies
Disorders
Hearing loss
Heavy chain
Light chain
Non-muscle myosin
Types
Myosin loss myopathy
Myositis
Antibodies
Ossificans
Myostatin
A
,
B
Myotilin
Myotonia
Acetazolamide-responsive
Congenita (Becker)
Congenita (Thomsen)
Fluctuans
Permanens
Treatment
Myotonic Dystrophy
DM1
DM2
Myotoxins
MYOTREM
Myotubular Myopathy
Myotubularin
Myoz2
Myxedema
N
N
2
O
Nakajo-Nishimura
NALCN
NARP
Native American Myopathy
Navajo neuropathy + Arthropathy
Navajo neuropathy + Corneal ulcers
NAXE
NBIA
ND proteins
NDAXOA
NDC1
NDRG1
NDUF
NDUFAF
NDUFS6
Nebulin
Neck weakness
Posterior
Necklace body
Necroptosis
Necrosis
Myopathies
Immune Myopathies
NEDAHM
NEDCAM
NEDHAHM
NEDLAS
NEFH
NEFL
NEK1
Nemaline Rod Myopathy
NEMF
Neonatal Perifascicular Myopathy
Neoplasm, Nerve
NERIB
Nerve Biopsy
Nerves
Normal
Upper extremity
Lower extremity
NESCAVS
Nesprins:
1
;
2
Neuralgic Amyotrophy
Neuregulin 1
(NRG1)
Neuroacanthocytosis
Neuroaxonal Dystrophy
Neurofascin
Antibody
Mutations
Neurofibroma
Neurofibromatosis:
1
;
2
Neurofilaments
CSF
Disorders
Motor neuron disease
(NEFH)
Neurofilament antibodies
NEUROG1
Neuroleptic-Malignant Syndrome
Neuromuscular Disease: Patterns
Neuromuscular: Evaluation
Neuromuscular Junction Disorders
Neuromuscular Laboratory
Antibody tests
Certification
Pathology (Muscle & Nerve) tests
Neuromyotonia
Neuronal Intranuclear Inclusion Δ
(NIID)
Neuronal pentraxin 1
Neuronopathy
Neuropathy
Childhood
Chronic immune axonal
Chronic immune demyelinating
with CNS disease
Differential Diagnosis
Syndromes
Neurotoxic esterase
Neurotransmitters
Neurotrophins
Neutral lipid
NFS1
NFU1
NGFB
NGLY1
n-Hexane
Niemann-Pick, Type C
NIID
NIPA1
Nitrofurantoin neuropathy
Nitrous oxide neuropathy
Nivolumab
NMNAT2
NMOAS
Node of Ranvier
Nodopathies
Noggin
Nonaka distal myopathy
Noonan
NOP56
NOS
Notalgia paresthetica
Notch
NOTCH2NLC
NPC1
NPL
n-propyl bromide (1-Bromopropane)
NPTX1
NrCAM
NRIP
N/S HNST
NS6S
NSUN3
NSVN
NT5C1A
NTRK1
NUBPL
Nuclei
Envelope
Nucleoid, mitochondrial
Nucleoside neuropathy
Nucleosome, Antibodies
Nucleotide salvage
NUDT2
NUP88
NUP107
NUP133
NUS1
NUTM2B-AS1
NXP-2 antibody
O
Obesity
OBSCN
Obturator nerve
Occupations
Oculomotor apraxia
Oculopharyngeal Muscular Dystrophy
Oculopharyngodistal myopathy
OGDHL
Ohdo
OJ
OMIM
Ondine
Onion bulbs
OPA
OPA1
OPDM
Opioids
Ophthalmoplegia
OPLL
OPMD
OPML1
Opsoclonus-Myoclonus
Optic Nerve
Optic neuropathy:
Hereditary
Optineurin
(OPTN)
ORAI1
Orbital myositis
Organophosphorous esters
Orthostatic hypotension
Ornithine aminotransferase
OSGEP
Osimertinib
Ossification of posterior longitudinal ligament
Osteosclerotic Myeloma
O'Sullivan-McLeod syndrome
Ovary
Ovoid
Oxaliplatin
OXR1
P
P0
P1 receptors
P2 receptors
P4HTM
p62
p97
p140
p155/140
Paclitaxel
PACSIN3
Paget disease
Pain
General principles
Insensitivity
Medications
Opioids
Myopathy
Neuropathy
Palmaris brevis spasm
Palytoxin
Pancreas
Pantothenate kinase 2
(PANK2)
Papilledema
Paraganglioma
Paramyotonia congenita
Paraneoplastic syndromes
Paraspinous muscle weakness
Parathyroid
Paroxysmal
Cerebellar Ataxia (EA2)
Choreoathetosis/Spasticity
Extreme Pain
Parsonage-Turner
Pathology: Index
Patient information & resources
Patterns: Neuromuscular Disease
PAX3
PAX6
PAX7
PBP
PCA-2 antibody
PCARP
PCH
PCWH
PCYT2
PDH
PDHA1
PDK3
(PDHK3)
PDP1
PDSS1
PDSS2
PDXK
Pearson's
PEBEL
Pectoral
Muscle aplasia
Medial pectoral nerve
Pelizaeus Merzbacher
Pelizaeus Merzbacher-like:
1
;
2
Pellagra
Pembrolizumab
Pena-Shokeir
Penicillamine
Pentaborane
PEO
Perhexiline neuropathy
Periaxin
Pericyte
Perimysial pathology
Perimyositis
Perineurioma
Perineurium
Perineuritis
Periodic fever + Focal myositis
Periodic paralysis
Hyperkalemic
Hypokalemic
Peripheral axons: Characteristics
Peripheral nerve tumors
Peripherin
Perlecan
Peroneal nerve
Peroxisomes
:
Refsum
Perrault
PEX:
1
;
2
;
7
;
10
12
;
16
;
26
PFK
PFN1
PGAM2
PGAP1
PGC-1α
PHARC
Phenylketonuria
Phenytoin neuropathy
PHKA1
Phosphofructokinase, M subunit
Phosphoglucomutase
Phosphoglycerate Kinase
Phosphoglycerate Mutase, M subunit
Phosphoinositide disorders
Phospholipase A
2
proteins
Phospholipid antibodies
Phosphorylase (McArdle's)
Phosphorylase b Kinase
Phrenic
Physical examination
Pi (Reich) Granules
PI4Ka
PIEZO2
Piezo channels
PIGB
PIGG
PIGK
PIGY
PIK3CA
PIP5K1C
Pipecolic acid
Pipestem capillaries
PIP Phosphatase
Piriformis
PITRM1
Pitt-Hopkins
PITX1
PL-7
PL-12
PLA2G6
Plasma exchange
Platin
Plectin
PLEKHG5
Plexin D1
Plexopathy
Brachial
Lumbosacral
Neoplastic
Radiation
PLIN4
PLP1
PLS
PMA
PMM2
PMP2
PMP-22
PMPCA
PM-Scl
PNKP
PNL
PNPLA2
PNPLA6
PNPLA8
PNPT1
P0 Protein
Podophyllin
POEMS
POGLUT1
POIKTMP
Poland syndrome
POLG
POLG2
Polio
POLR:
1C
;
3A
;
3B
;
3K
POLRMT
Polyarteritis nodosa
Polychlorinated biphenyls (PCBs)
Polyglucosan
Deposition
Disorders
GBE1
Polymyalgia Rheumatica
Polymyositis
Polyneuropathy
POMGNT1
POMGNT2
POMK
POMP
Pompe
POMT1
POMT2
Pontocerebellar hypoplasia
POPDC1
POPDC3
Porcine brain-associated neuropathy
Porphyria
Positive sharp wave
Posterior column ataxia + RP
Posterior interosseus nerve
Posterior neck weakness
Posterior tibial nerve
Post-paralysis paralysis
Post-polio syndrome
Postural hypotension
Postural orthostatic tachycardia (POTS)
Potassium Channels
Antibodies
Disorders
POTS
POU4F1
PPA2
PPCS
PPP2RB2
(PP2A)
PRAAS
PRDM12
PRDM13
PRDX3
Prednisone
Pregnancy
PREPL
Pressure Palsies, Hereditary Liability to
Presynaptic proteins
Primary lateral sclerosis
Primary muscular atrophy
Prion
Prion-like domains
(PrLD)
PRKAG:
2
;
3
PRKAR1B
PRKCG
Profilin-1
Progranulin
P
rogressive
E
xternal
O
phthalmoplegia (PEO)
PROMM
Pronator syndrome
Propofol
Proprioception
PRORP
Proteasome
Protein degradation
Proteoglycans
Proteolipid protein (PLP)
Proximal
Arms - Myopathy
Motor Neuropathy
Sensory Neuropathy
Proximal Myotonic Myopathy (PROMM)
PRRT2
PRUNE1
PSAT1
PSEN1
(Presenilin 1)
PSMB
PSMC3
Psoas, hypoplasia
PTCD3
Pterygium, Multiple
PTF1A
PTPLA6
PTPMT1
PTPN11
PTRH2
PURA
PUS1
PYCR2
PYGM
Pyomyositis
Pyridostigmine
Pyridoxine
Deficiency
Intoxication
PYROXD1
Pyruvate carboxylase
Pyruvate dehydrogenase
Q
QRSL1
QT Syndromes
Long
K
+
Channel Disorders
Na
+
Channel Disorders
Short
Quadriceps weakness
Quadrilateral space syndrome
Quadriplegic myopathy, Acute
Quarter horse
R
RAB3GAP2
RAB7
RAB40B
Rabies
Radial nerve
Radiation
Brachial Plexopathy
Lumbar Plexopathy
Myelopathy
Ramsay-Hunt
Rapsyn
RBCK1
RBM20
RDH11
Recent revisions
Recruitment
Reducing body myopathies
REEP1
Reflex sympathetic dystrophy
Reflexes, Tendon
Refsum
Relapsing
Renal disease
Renaut bodies
Repetitive nerve stimulation
Respiratory Failure
Rett syndrome
RFC1
RFC4
Rhabdomyolysis
Rheumatoid arthritis
Rhomboid
Ri antibody
Riboflavin
Ribonucleoprotein (RNP)
Riche-Cannieu
RIDDLE syndrome
Rienhoff
Rigid spine
RIIM
Riley-Day
RILPL1
Riluzole
Ring fiber myopathy
Ring finger proteins (RNF)
13
168
170
216
220
RINT1
Rippling Muscle Syndrome
Rituximab
Orders
Protocol
Treatment
RMRP
RNA:
Splicing
RNASEH1
RNF170
RNF216
RNU12
Ro antibody
ROBO3
Rod Myopathy
Romberg
Roots
Upper extremity
Lower extremity
Roussy-Levy
Ross syndrome
RPIA
RPL3L
RRM1
RRM2B
RTN2
Rucksack paralysis
Russe
Ryanodine receptors
RYR1
RYR2
RYR3
S
Sacsin
(SACS)
SAE (SUMO) antibody
Salbutamol
Salih myopathy
Salla syndrome
SAMD9L
SANDO
Sarcocystis
Sarcoglycans
Disorders
Sarcoid
Sarcopenia
Sarcotubular
SARM1
Satellite cells
Sartorius
Satoyoshi
Saxitoxin
SBF1
SBF2
SBMA (X-linked)
SCA
Dominant
Recessive
SCAD
Scapular winging
Scapuloperoneal
SCAR
Scheie syndrome
Schmidt-Lanterman Cleft
Schwann cells
Schwannoma
Schwartz-Jampel
Sciatic nerve
Scleroderma
Scleromyxedema
SCN
:
2A
;
4A
;
8A
;
9A
Scoliosis
SCO2
SCP2
SCS
SCYL1
SCYL2
SDH:
A,
B,
C,
D,
Stain
SECISBP2
Seckel 8
Selectins
SELENOI
Selenium
Deficiency
Selenoprotein N 1
(SEPN1)
Selumetinib
Semaphorins
Semimembranosus
Semitendinosus
Senataxin
Sengers
Sensory
Ataxia
Neuropathy
Idiopathic
Large Fiber
Large & Small Fiber
Neuronopathies
Small Fiber
SEPN1
SERAC1
SERCA1
Serine
Serotonin syndrome
Serratus anterior
Sertraline
SeSAME
SETX
SFXN4
SGOL1
SGPG
SGPL1
SH3TC2
SHH
SHMT2
Short QT
Shoulder
Shwachman–Diamond
Shy-Drager
Sialic acid
Sickle cell disease
Sideroblastic anemia
Siderosis
SIFD
SIGMAR1
SIL1
Silver
Silver syndrome
Sjögren-Larsson
Sjögren's
Skeletal disorders
Skin biopsy
Skin changes
SLC1A3
SLC1A4
SLC2A1
SLC2A9
SLC5A6
SLC5A7
SLC9A6
SLC12A6
SLC17A5
SLC22A5
SLC25
SLC25A
SLC35
SLC52A3
SLONM
SLSMD
SMA
Sm antibodies
SMABF
SMAD2
SMAD4
SMADIP1
SMAJ
SMA-LED
Small fiber neuropathy
SMARD
SMCHD1
SMGMQTL
SMN
SMNA
SMPX
Snake venom toxins
SNAP25
SNAPC4
SNARE
SNAX1
snRNP
SNUPN
SNX14
SOD1
Sodium Channels
Disorders
Sodium cyanate neuropathy
Solumedrol treatment
Orders
SORD
SOX1
SOX8
SOX10
Spanish toxic oil
SPAR
Spastic
Ataxias
(SPAX)
Dystonia
Paraplegias
Spectrins
SPEG
SPG
Spheroid body myopathy
Spinal accessory nerve
Spinal Cord Disorders
Hereditary
Systemic Causes
Trauma
Vascular
Spinal cord syndromes
Anterior cord
Brown-Séquard
Cauda Equina
Conus medullaris
Hemicord
Posterior cord
Spinal Muscular Atrophies
Benign congenital with contractures
Bulbo-Spinal Muscular Atrophy
X-linked (Kennedy's)
Autosomal Dominant
Distal SMA
HMN 1
;
2
;
5
Diaphragmatic paralysis & Neonatal
Distal Ulnar-Median
Recessive
Upper limb predominance
Vocal cord involvement
Congenital with leg weakness
Dominant, Proximal
SMALED
Scapuloperoneal syndromes
SMA 5q
Congenital with arthrogryposis
Werdnig-Hoffmann
Kugelberg-Welander
Spinal muscular atrophy 2
X-linked Infant & Arthrogryposis
Spindles, muscle
Excess + Congenital myopathy
Spine disorders
Spliceosomes
SPOAN
Spondylosis
, Cervical
Spontaneous Muscle Activity
Sports disorders
Backpacking
Baseball
Bicycle
Bodybuilding
Bowling
Football
Mountain climbing
Surfing
Volleyball
SPTAN1
SPTBN2
SPTBN4
SPTLC1
SPTLC2
SPTLC3
SPTSSA
Spurling test
SQSTM1
SQT
SRP
SRPK3
SS18L1
SSA
SSBP1
SSc
STAC3
STAHP
Stains: Muscle biopsy
Statins
Myopathy
Neuropathy
Sternotomy
Stiffness, congenital
Stiff-person Syndrome
STIM1
Stormorken
Strachan syndrome
Striational Antibodies
Strongman
Struthers
Arcade
Ligament
Strychnine
STUB1
Stuve-Wiedemann syndrome
STXBP5L
Subperineurial edema
Substance P and Tachykinins
Succinate Dehydrogenase
Leigh's Syndrome
Rhabdomyolysis
SUCLA2
SUCLG1
Sudden death, Cardiac
Sudden infant death
(SIDS)
Sulfatide
Superficial siderosis
Superior oblique myokymia
Superoxide Dismutase
Suprascapular nerve
SUR2
Sural nerve
Suramin neuropathy
SURF-1
Surfing
SVBP
SVIL
Sweating disorders
Sydenham chorea
Synaptic Proteins
Presynaptic
Postsynaptic
Synaptobrevin
Synaptotagmin 2
(SYT2)
SYNE:
1
;
2
Syntaxin
Synthetase antibodies
Syntrophin
Syphilis
Syringomyelia
Systemic lupus erythematosis
Systemic Sclerosis
SYT2
T
T1D
(IDDM)
T2D
Ta
TACH
TACO1
Tacrolimus
TAMM41
Tangier disease
TANGO2
Target fibers
Tarsal tunnel
Tarsal tunnel, anterior
TATA binding protein
Taxol neuropathy
Tay-Sachs
TBCD
TBCE
TBCK
TBK1
TBP
TBX5
TCAP
T-cells
TCF4
TDP-43
TECPR2
TEFM
Telbivudine
Telethionin
Tel Hashomer camptodactyly
Telithromycin
Tellurium
Temperature
Cold
Heat
Noxious
Tendon reflexes
Test forms
Tetanus
Tetany
,
EDx
Tethered cord
Tetrodotoxin
TFG
TGF-β
TGM6
Thalidomide neuropathy
Thallium
THAP11
Thermoanalgesia
Thenar motor neuropathy
THG1L
Thiamine
THOC2
Thomsen
Thoracic outlet syndrome
Thymidine kinase
(TK2)
Thymoma
Thymus
Thyroid
TIA1
Tibial nerve
Tick paralysis
TIF1γ
TIMM22
Titin
Antibodies
Muscle
TK2
TMEM
TMEM5
TMEM43
TMEM48
TMEM63C
TMEM218
TMEM240
TNNC2
TNNT1
TNPO3
TOGARAM1
Tomaculae
Differential diagnosis
Pathology
TOMM70
Tongue
Topoisomerase 3A
TOR1A
TOR1AIP1
Toxic myopathies
Toxic neuropathies
Toxins: Snake venom
Toxoplasmosis
TPI1
TPM2
TPM3
TPR
TPRKB
TPSAB1
Tr antibody
Transforming growth factors β
Transmitters
Transthyretin
Transverse myelitis
Trapezius
TRAPPC11
TRAPS
Treatment strategies
TREK
TREM2
Tremor, Myopathic
TRESK
Triadin
Triads
Triceps
Trichinellosis (Trichinosis)
Trichloroethylene
Trifunctional protein
Trigeminal neuralgia
Triglycerides
TRIM-32
TRIM-63
(Murf1)
TRIM antibodies
TRIM21
TRIM24
TRIM32
TRIM33
TRIM72
Triorthocresyl phosphate (TOCP)
Triosephosphate isomerase
(TPI1)
TRIP4
Trisulfated heparin disaccharide
TRIT1
TrkA
TRMT5
TRMU
tRNA synthetase
Antibodies
Trophic factors
Tropical
Ataxic neuropathy
Pyomyositis
Spastic paraparesis
Tropomyosin
Tropomyosin-2
Troponin
Troponin T (Cardiac)
Troyer syndrome
TRP ion channels
TRPA
TRPA1
TRPC
TRPV4
TSEN
TS-HDS
TTC19
TTID
TTR
TUBA4A
TUBB4A
Tuberculosis
Tubular aggregates
Tubulin
Antibodies
Disorders
Tubulin-reactive crystalline inclusions, Myopathy
Tumor-like disorders
Tumor necrosis factor-α
Tumor necrosis factor receptor 1A
Tumors: Peripheral nerve
Twinkle
(TWNK)
TYMP
Type atrophy
Type 1 fiber
Type 2 fiber
Typhus
Tyrosine kinase inhibitors
Tyrosine kinase receptor ligands
Tyrosinemia
U
U1-snRNP
Antibody
Spliceosomes
UBA1
(UBE1)
UBA5
UBAP1
Ubiquitin
UBE3C
UBQLN2
UCHL1
Udd
Ulcerative colitis
Ulceromutilation
Hereditary neuropathy
Ullrich CMD
Ulnar nerve
UNC13A
UNC45B
Unknowns
UQCC2
UQCRC1
UQCRFS1
UQCRH
Urea cycle
Uremia
Uruguay Facio-Cardio-Musculo-Skeletal Syndrome
USMG5
Utrophin
V
Vacor
Vacuoles: Muscle
Valine
Valproate
VAMP
VAMP, Inflammatory Myopathy
VAPB
Vanishing white matter
Varicella
Vasculitis
VCP
VEGF
Vein
Velcade
(Bortezomib)
Venoms: Snake Toxins
Venous insufficiency
Ventricular fibrillation
Vernant's disease
Very long chain acyl-CoA dehydrogenase
Vesicle membrane proteins
VEZF1
Vibration
Vici syndrome
VII nerve
Vinca alkaloid neuropathy
Visceral
Myopathy
Neuropathy
Visual field disorders
Visual loss
Optic neuropathy
Paraneoplastic
Vitamin disorders
B
12
deficiency
D deficiency
E: Deficiency & Intoxication
VLCAD
VLDLR
VMA21
Vocal cord disorders
Voice, hoarse
Von Hippel-Lindau
VPS4A
VPS13
VPS13A
VPS13D
VPS41
VPS53
VRK1
VWA1
W
Waardenburg
Waldenström's macroglobulinemia
Walker-Warburg
Wallerian degeneration
Wartenberg's sensory neuritis
WASHC4
Wasting
Weakness, acute
WDR4
WDR73
Wegener's
Weibel Palade bodies
Weight lifting
Welander
Werdnig-Hoffmann
West Nile Virus
Whipple's disease
Wieacker-Wolff
Williams-Beuren syndrome
Wilson's Disease
Winging (Scapular)
WNK1
Wolfram syndrome
Worster-Drought syndrome
WWOX
X
Xeroderma pigmentosum
XK membrane transport protein
X-linked HMSN
XMEA
Xp21 microdeletion syndromes with Duchenne MD
Y
YARS
YME1L1
Yo
YOBELN
YRDC
Z
ZAK
ZASP
ZBTB11
ZC4H2
Z-disk (Z-line)
Streaming
Zebra body
Zellweger
ZFHX2
ZFHX3
ZFYVE27
Zika
Zimeldine
Zinc
ZMIZ1
Zo
Zoster
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10/19/2024