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Neuromuscular Home Page
A
A-wave
AAA syndrome
α-Actinin
AARS
Aarskog–Scott
Abattoir
ABC
ABCC9
αB-crystallin
Abdominal muscles
A-β-lipoproteinemia
Absent muscles
ACAD
ACAD9
ACADVL
Acanthosis Nigricans
Acetylcholine & ACh Receptors
Acetylcholine Receptor
Antibodies
Disorders
Epsilon subunit
Myasthenia Gravis
Acetylcholinesterase
Achalasia
Achondroplasia
Acid Maltase
Aconitase 2
ACOX1
Acromegaly
Acromutilation (Ulceromutilation)
Acrylamide
ACTA1
Actin
Actinin
Activation
ACTN2
ACTN3
Acute
Immune neuropathies
Motor Neuropathies
Myopathies
Neuropathies
Quadriplegic myopathies
Weakness
Acylcarnitine
Acyl-CoA dehydrogenase disorders
hydroxy
long chain
medium chain
very long chain
Multiple deficiency
ADA2
ADCK:
2
;
3
;
4
Adductor
Adenosine receptors
Adhalin
Adhesion molecules
Adie
ADOAC
Adrenal
Adrenomyeloneuropathy
ADSSL1
α-Dystroglycan
Disorders
AFG3L2
α-galactosidase
AGAT
Age:
Muscle
;
Nerve
Agrin
AGTPBP1
AHNAK2
AIAW
AIFM1
AIN
AIRE
Alacrimia
Alanine-repeat disorders
ALCL
Alcoholic (Ethanol) polyneuropathy
ALDH3A2
ALDH5A1
Aldolase A deficiency
Alexander disease
Adult onset
Mitochondrial
ALG14
Allgrove syndrome
Allodynia
All-
Trans
-Retinoic Acid
Allyl chloride
Alpers-Huttenlocher
α-Methylacyl-CoA racemase
(AMACR)
Almitrine neuropathy
Alpers
ALS
ALS Association
Alsin
AMACR
AMAN
Aminoacyl-tRNA synthetase
Antibodies
Cytoplasmic
Mitochondrial
e
-Amino Caproic Acid
Amiodarone neuropathy
Ammonia
AMPDA deficiency
Amphiphysin
Amphiphysin 2
Amyloidosis
Amyotrophic Lateral Sclerosis (ALS)
Hereditary
Sporadic
An-α-lipoproteinemia
ANCA
Andermann Syndrome
Andersen disease
Andersen periodic paralysis
Androgen Receptor
Angiogenin
Angiotropic lymphoma
Anhidrosis
Anion exchangers
Ankylosing spondylitis
ANO5
ANO10
Anterior interosseus nerve
Anterior primary rami
Antibodies
Acetylcholine Receptor
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
APOO
Apoptosis
Congenital myopathy + Apoptosis
Aquporin-4 (AQP4)
Arachnoiditis
Argininemia
Argininosuccinate lyase
Arm predominance
Myopathy
Neuropathy
Arnold-Chiari Malformation
ARS
Antibodies
Cytoplasmic
Mitochondrial
ARSA
ARSACS
Arsenic
Arthrogryposis
Arts
ARVD
ASCC1
ASL
Asymmetric
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
Athletes
Disorders
Genetics
Atlanto-Axial instability
α-tocopherol transfer protein
(ATTP)
ATP
ATP1A2
ATP6AP2
ATP13A2
ATP5MD
ATPase 6
ATPase Disorders
Atrial septal defect
Atrophy, type 2 muscle fibers
ATXPC
Autonomic Disorders
Syndromes
Cardiac
Sweating
Hypotension
Urinary
Sexual
Ocular
Autophagy
Differential diagnosis
Excessive
General features
Pathology
AVSF
Pathology
Axenfeld-Rieger anomaly
Axillary nerve
Axon reflex
Axonal
Damage or Loss
Neuropathies - Immune
Transport
Axons: Characteristics
Azathioprine
AZT myopathy
B
B
12
, vitamin
B3GALNT2
B3GNT1
BACM
BAG3
Bailey-Bloch
Baltic myoclonus
Bariatric surgery
Barium
Barnes's myopathy
Barth syndrome
Basal Lamina: Muscle
Baseball
Basement membrane
Baxter's nerve
BCIM
Becker Muscular Dystrophy
Becker Myotonia
Bee stings
Behçet
Behr syndrome
Bell's Palsy
Benign acute childhood myositis
β-Enolase
Bent spine syndrome
Bethlem myopathy
β-galactosidase
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
Björnstad syndrome
Black widow spider toxin
Blepharophimosis
Blood-Nerve Barrier
Bodybuilding
Bone morphogenetic proteins
Bortezomib
(Velcade)
Botulism
Boucher-Neuhäuser
Brachial Amyotrophic Diplegia
Brachial Plexopathy
Brachial plexus: Innervation
Branching Enzyme
Brachio-Cervical Inflammatory Myopathy
Pathology
BRAT1
Brentuximab
Broad A-band disease
Brody Disease
1-Bromopropane (n-propyl bromide)
Brown-Vialetto-van Laere
(BVVLS)
Brucellosis
Brugada
BSCL2
BSMA (X-linked)
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
c9orf72
c20orf7
CA8
Cabezas
CACNA1A
CACNA1H
CADASIL (Multi-infarct dementia)
Cadherins
CADM-140
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
Camurati-Engelmann
CANOMAD
CANVAS
Cap myopathy
Capillaries
CAPOS syndrome
Carbohydrate Deficient Glycoproteins
Carbon disulphide
Cardiac Disorders
+ Myopathy
Heart only; Hereditary
Cardiofaciocutaneous 1
Cardiomyopathy
Dilated
Hypertrophic
Mitochondrial
Carey-Fineman-Ziter
Carnitine
Carnitine-acylcarnitine translocase
Carnitine palmitoyltransferase II
Carpal tunnel syndrome
Cartilage-Hair hypoplasia
Caspr2
CASQ1
Cataract & Facial disorder: HMSN
Catecholamines
Cathepsin D
Cavanagh's sensory neuropathy
Caveolin-3
CCDD
CCFDN
CCHS
CCNF
CCT5
CD59
CDG
CEDNIK
Celiac disease
CEMCOX
Central Core
Central European encephalitis
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
Chagas'
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
Chronic Fatigue Syndrome
Chronic Immune Demyelinating PN
Churg-Strauss
CIDP
Ciguatoxin
CIPO
cis
-platinum neuropathy
CISP
CISS
CK
CLCN
Cleidocranial dysplasia
Clevudine
CLN3
Club foot
CNS antibody
CMT
CNTN1
CNTNAP1
COA7
COACH syndrome
COASY
Cobalt
Cocaine
Cockayne syndrome:
A
;
B
,
ERCC1
Coenzyme Q10
Ataxia
Deficiency
(COQ10D)
Coffin-Lowry
Cofilin-2
(CFL2)
Colchicine
Myopathy
Neuropathy
Cold
Induced sweating
:
1
;
2
Related neuropathy
Sensation
Collagen
Type IV
Type VI
Bethlem
OPLL
Ullrich
Type IX
Type XII
Type 13A1
Collagen pockets
Collagen vascular diseases
Collateral sprouts
Common peroneal nerve
COMP
Compartment syndromes
Complement
Complex regional pain syndrome
Complex repetitive discharges
CONDCA
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
Cores
Cores + Rods
Cortactin
Corticosteroid
Disorders
Treatment
Cough
Cowchock Syndrome
Cowden
COVID-19
COX6A1
COX6A2
COXPD
CPEO
CPSQ
CPT II
Cramps
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
CRMP-5 syndromes
Crohn's disease
CRYAB
Cryoglobulins
Cryptococcus
CSPP1
CSPQ
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
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
DCTN1
d4T neuropathy
ddC neuropathy
ddI neuropathy
Deafness
Achondroplasia
Connexin-26
Dystonia
Hereditary Neuropathies
Mitochondrial
Morquio
Myosin: Unconventional
Debranching Enzyme
Decorin antibodies & myopathy
Degradation: Protein
Dejerine-Sottas
Delayed onset muscle soreness (DOMS)
Deltoid
Demyelinating Neuropathies
Differential Diagnosis
Immune
Dengue
Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Dermatologic changes
Dermatomyositis
(Dermatomyopathies)
desert hedgehog
Desmin myopathies
Cardiac Failure
Myofibrillar myopathies
Respiratory Failure
Desmoplakin
DHH
DHPR
DHX16
Diabetes
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
Dimethylamine Borane
Dimethylaminopropionitrile
Dinitrophenol
Dioxins
Diphtheria
Disc disease
Disclaimer
Distal Myopathies
Distal SMA
(HMN)
Distal Ulnar-Median Muscular Atrophy
Disulfiram neuropathy
DM1
DM2
DM3: See
IBMPFD
DMAPN
DM-VP
DNA
Repair disorders
Repeat disorders
DNA2
DNAJ
B2
;
B5
;
B6
C3
;
C7
;
C19
;
C30
DNM1L
DNM2
DNMT1
Docetaxel
Dok-7
DOLK
DOMS
Dopamine
Dopamine β-hydroxylase
Dopamine receptor D4
Dorsal scapular nerve
Doxorubicin
DPM:
1
,
2
,
3
DPPX
Dravet
Drug-induced neuropathies
Drugs: Immunomodulation
DTNBP1
DTR
Duane's syndrome
Duchenne Muscular Dystrophy
Dusty core
DUX4
Dyggve-Melchior-Clausen disease
Dynactin
Dynamin
Dynamin 2
Related Disorders
Dynein
Dysautonomia
Dysferlin
Dysphagia
Dysthyroid ophthalmopathy
Dystonia-Spasticity
Dystonin
Dystroglycan
α-Dystroglycan disorders
Dystrophinopathies
Gene
Protein
Dystrophin-associated Glycoproteins
E
E3 ubiquitin ligase
e
-Amino Caproic Acid
Early Growth response (EGR) genes
EBP50
ECEL1
ECHS1
Ectopic lymphoid structures
Eculizumab
Edaravone
EDMD
EGPA
EGR2
Ehlers-Danlos
eIF2B
EJ antibody
Electron transport flavoprotein (ETF)
Elejalde
ELOVL1
ELOVL4
EMARDD
Emery-Dreifuss Dystrophies
Emetine
EMILIN-1
EMPF
EN1
Encephalomyopathy
Endocrine
Endoneurium
Microvessels
Endoplasmic reticulum:
Disorders
ENDOVE
Endplate spikes
β-Enolase
Enterovirus:
D68
;
71
,
IMPP
EOMES
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
Erdheim-Chester
ERGIC1
ERLIN1
ERLIN2
Erythromelalgia
(Erythermalgia)
Escobar
ETFA
ETFDH
Ethambutol neuropathy
Ethanol:
Myopathy
;
Neuropathy
ETHE1
Ethionamide neuropathy
Ethylene glycol
Ethylene oxide
Evaluation of neuromuscular disease: Guidelines
Excessive Autophagy
Excitation-Contraction
Exosome
Exercise:
Genetics
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
Farber lipogranulomatosis
Fasciculations
Fasciitis
Fatigue
Chronic
Differential Dx
Fatty acid amide hydrolase
Fatty acid oxidation
Fatty acid transport
Fazio-Londe
FBXL4
FBXO38
FDX1L (FDX2)
Femoral nerve
Fe-S
Fetal Akinesia
FEWDON
FGFR3:
Antibody
;
Protein
FHL1
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
FIG4
Filamin A
Filamin C
Finger extension
Fingerprint body
Finnish encephalopathy
Finger extension
FITM2
FKRP
FKTN
Flecanide
Flier's Syndrome
FLNC
Fludarabine
FLVCR1
Focal
Fibrosing myopathy
Myositis
Focally folded myelin
Folate
FOP
FOSMN
FOXRED1
Freezing muscle: Methods
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
Gangliosides & glycolipids
Gap junctions
GARS
Gasoline Neuropathy
Gastric bypass
Gastrointestinal
Gastric bypass
Myopathy
Neuropathy
GATB
GATC
Gaze palsy:
1
;
2
GBF1
GBS
GDAP1
GDAP2
Gelsolin
Gemcitabine
Germanium myopathy
Gerstmann-Straüssler-Schienker
GFER
GFM2
GFPT1
GGPS1
Gillespie
GIPC1
GJB1
GJC2
GLE1
γ-Glutamyl Cysteine Synthetase
Giant Axonal Neuropathy
Gillespie
Gliomedin
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
Glycosylation
Deficiency
Disorders
Muscle-Eye-Brain syndrome
GM1
Antibodies
Ganglioside
GM2 gangliosidosis
GMPPB
GNB4
GNE
Gold neuropathy
Goldberg-Shprintzen
GOLGA2
Golgi
Gomez-Lopez-Hernandez
(GLHS)
Gonadal dysgenesis:
HSN
;
HMSN
Gordon Holmes:
1
;
2
GOSR2
Gossypol
Gowers distal myopathy
GRACILE syndrome
Gracilis
Graft-vs-host
Granulomatous Myopathy
GRID2
Griscelli
GTDC2
Guillain-Barré
Guyon canal
Gynecomastia
H
4H
H-reflex
HACD1
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
Heat shock proteins
Helix syndrome
Hemifacial spasm
Hemochromatosis
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
HIV
HK1
HLA: Disease associations
Myasthenia gravis
Myositis
HLD7
HMERF
HMG-CoA Reductase (HMGCR)
Antibodies
Inhibitors
HMGCS2
HMN
(Distal SMA)
HMSN
HMSN-Russe (HMSNR)
HNA
HNPP
HNRNPDL
HNRP
Hoarse voice
Holmes-Adie syndrome
Holmes Ataxia
Holt-Oram
Horner's syndrome
Hoyeraal-Hreidarsson
HSAN
HSD17B4
HSF1
HSP
HSPB1
HSPB3
HSPB8
HTLV-1
HTT
Hu
Human immune globulin
Human Immunodeficiency Virus (HIV)
Humor
Huntington
Hurler
Hyaline body myopathy
Hydralazine neuropathy
Hydroxychloroquine
Hydroxyglutaric aciduria
D-2 & L-2
L-2
Hydroxyurea
Hymenoptera venom
Hyperekplexia
Hyperhidrosis
Hyperkalemic Periodic Paralysis
Hypermobility, Joint
Hyperornithinemia-Hyperammonemia-Homocitrullinuria
Hypertrophy, Muscle
Hypoglycemia + Neuropathy
Hypogonadism
+ Ataxia
Hypokalemic Periodic Paralysis
Hypomyelinating neuropathies
Hypotension
I
IBM
IBMPFD
sIBM
Ichthyosiform erythroderma
Idiopathic neuropathy
Ifosfamide neuropathy
IgG
4
IKSHD
Illustrations: Index
IMAM
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
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
ITP
ITPR3
Ixabepilone
J
JAG1
Jensen syndrome
JMP syndrome
Jo-1
Myopathy
Joint
Contractures
Hypermobility
Joubert syndromes
Journal Club
K
Kaeser
Kallman syndrome:
2
;
6
;
Deafness
KARS
KBTBD13
KCN
Kearns-Sayre
Kennedy's Syndrome
KIF disorders
KIF26B
Kinesins
King-Denborough
KLHL40
KLHL41
Klippel-Feil
Klippel-Trenaunay-Weber
Köbberling-Dunnigan Syndrome
Konzo
Krabbe
Ku antibody
Ky
L
L1CAM
L-2 Hydroxyglutaric aciduria
Laboratory
Antibody tests
Certification
Pathology (Muscle & Nerve) tests
Lactate
Lactate dehydrogenase, M (muscle) subunit
Lafora disease
Laing
Lambert-Eaton Syndrome
Lamin
Disorders
Lamin A/C
Lamin B1
Laminins
α2
α4
β2
LAMP-2
LAP1
LARGE
Large
Muscles
Nerves
Lateral femoral cutaneous nerve
Latrotoxin
LBSL
LCAD
LCCS
LCHADD
Lead
Leber's Optic Atrophy
Leflunomide
Leigh Syndrome
LEMS
Leprosy
Lethal congenital contracture
Lethal congenital myopathy
Leukodystrophy
Leukoencephalopathy
Lewis-Sumner
Lgi1
Lgi4
LGMD
LHIM
LHON
Licorice
Lidocaine
Ligament of Struthers
Limb-Girdle Muscular Dystrophy
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
LMOD3
Long QT Syndromes
K+ Channel
Na+ Channel Disorders
Long thoracic nerve
Lower Motor Neuron syndromes
LRIF1
LRP4
LRP10
LRP12
LRPPRC
Lumbar plexus
Lumbosacral plexus
Lumbosacral plexopathies
Lung disease, Interstitial
Lupus
Lyme disease
Lymphoma
Intravascular
LYRM2
M
Ma
MACF1
Machado-Joseph
Macroglossia
Macrophages
Macrophage activation
Macrophagic myofasciitis
MADD
Madelung syndrome
Madras motor neuron disease
MADSAM
MAG
Magnesium
Malignant Hyperthermia
Malignant PN Sheath tumors
Maple syrup urine disease
MAPT
Marine toxins
Marinesco-Sjögren
Markesbery
Martin-Gruber anastomosis
MASA Syndrome
MAST1
Masticator myopathy
Matrin-3
MBP
MCAD
M-cadherin
McArdle disease
McLeod Syndrome
MC_DN
MC3DN
MCM3AP
MDA-5
(CADM-140) antibody
MDCCAID
MDDG
MDDGA
Mechanotransduction
MECP2 protein
Medial brachial fascial compartment
Median nerve
MEDNIK
MEF2 family
Megaconial
MEGCANN
MEGDEL
MELAS
Melkersson-Rosenthal syndrome
MEOAL
Meralgia paresthetica
Mercury
Merosin:
Deficient
;
Abnormal
MERRF
Metabolic syndrome
Metachromatic Leukodystrophy
Methotrexate
Methyl bromide
5,10 Methylenetetrahydrofolate Reductase
3-Methylglutaconic acid
(3-MGA; 3-MGCA)
Metronidazole neuropathy
MFF
MFM
MFN2
MGT-30
MGUS
MHC-I
Mi-2 antibody
MIC26
MICOS
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
MIRAS
Misonidazole neuropathy
Mitochondria
Complexes
Disorders
DNA breakage syndrome
Pathology
Ribosomal proteins (MRP)
Mitofusin 2
Mitoribosome
Miyoshi distal myopathy
MLASA
MMACHC
MMDS
MME
MMN
Mnf
(FOXK1)
MNGIE
Möbius Syndrome
MODY
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
MPD
MPP1
M-proteins
MPV17
MPZ
MRI, Muscle patterns
MRM2
MRP
MSCAE
MSTO1
Msx1
MT-ATP:
Disorders
,
Proteins
MTCO proteins
mtDNA depletion
MTDPS
MTHFR
MTM1
MTPAP
mtRNA
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
Murf1
Muscle
Absence (Congenital)
Basal lamina
Biopsy
Biopsy stains
Development
Fiber activity
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
Mycophenolate mofetil
Mycoplasma pneumoniae
Myelin
Myelin-Associated Glycoprotein (MAG)
Myelination: PN with abnormal
Myelocerebellar
Myeloma
Myelopathies
Myf5
Myf-6
MYH
MYH2
MYH3
MYH7
Gowers distal myopathy
Hyaline body
MYH14
Myhre Syndrome
MYL1
MYLPF
MYMK
MYO18B
Myoadenylate deaminase deficiency
MyoD
Myoedema
Myofibrillar (Desmin) myopathies
Myogenesis
Myogenic determination factors
Myogenin
(Myf4)
Myoglobinopathy
Myoglobinuria
Myokines
Myokymia
Differential diagnosis
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
Myxedema
N
Nakajo-Nishimura
NARP
Native American Myopathy
Navajo neuropathy with arthropathy
Navajo neuropathy with corneal ulceration
NBIA
ND proteins
NDUF
NDUFAF
Nebulin
Neck weakness
Posterior
Necklace body
Necrosis
Myopathies
NEDAHM
NEDHAHM
NEK1
Nemaline Myopathy
NEMF
Neonatal Perifascicular Myopathy
Neoplasm, Nerve
NERIB
Nerve Biopsy (Indications)
Nerves
Normal
Upper extremity
Lower extremity
Nesprins:
1
;
2
Neuralgic Amyotrophy
Neuroacanthocytosis
Neuroaxonal Dystrophy
Neurofascin
Antibody
Mutations
Neurofilaments
CSF
Disorders
Motor neuron disease
(NEFH)
Neurofilament antibodies
Neurofibroma
Neurofibromatosis:
1
;
2
Neuroleptic-Malignant Syndrome
Neuromuscular Disease: Typical Patterns
Neuromuscular: Evaluation guidelines
Neuromuscular Junction Disorders
Neuromuscular Laboratory
Antibody tests
Certification
Pathology (Muscle & Nerve) tests
Neuromyotonia
Neuronal Intranuclear Inclusion Disease
(NIID)
Neuronopathy
Neuropathy
Childhood
Chronic immune axonal
Chronic immune demyelinating
with CNS disease
Differential Diagnosis
Syndromes
Neurotoxic esterase
Neurotransmitters
Neurotrophins
Neutral lipid
NGFB
NGLY1
n-Hexane
Niemann-Pick, Type C
NIID
NIPA1
Nitrofurantoin neuropathy
Nitrous oxide neuropathy
Nivolumab
NMNAT2
NMOAS
Node of Ranvier
Nonaka distal myopathy
NOS
Notalgia paresthetica
NOTCH2NLC
NPL
n-propyl bromide (1-Bromopropane)
NS6S
NSUN3
NT5C1A
NTRK1
NUBPL
Nuclei
Envelope
Nucleoid, mitochondrial
Nucleoside neuropathy
Nucleosome, Antibodies
NUP88
NUS1
NUTM2B-AS1
NXP-2 antibody
O
O'Sullivan-McLeod syndrome
Obturator nerve
Occupations
Oculopharyngeal Muscular Dystrophy
Oculopharyngodistal myopathy
Ohdo
OMIM
Ondine
Onion bulbs
OPA
OPA1
OPDM
Ophthalmoplegia
OPMD
OPML1
Opsoclonus-Myoclonus
Optic Nerve
Optic neuropathy:
Hereditary
Optineurin
(OPTN)
Orbital myositis
Organophosphorous esters
Orthostatic hypotension
Ornithine aminotransferase
Osimertinib
Ossification of posterior longitudinal ligament
Osteosclerotic Myeloma
Ovary
Ovoid
Oxaliplatin
OXR1
P
P0
P1 receptors
P2 receptors
P4HTM
p62
p97
p140
p155/140
Paclitaxel
Paget disease
Pain
General principles
Insensitivity
Medications
Myopathy
Neuropathy
Palmaris brevis spasm
Palytoxin
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
PAX6
PAX7
PCA-2 antibody
PCARP
PCH
PCWH
PCYT2
PDXK
Pearson's
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
PGC-1α
PHARC
Phenylketonuria
Phenytoin neuropathy
Phosphofructokinase, M subunit
Phosphoglucomutase
Phosphoglycerate Kinase
Phosphoglycerate Mutase, M subunit
Phosphoinositide disorders
Phospholipase A
2
proteins
Phospholipid antibodies
Phosphorylase (McArdle's)
Phosphorylase b Kinase
Physical examination
Pi (Reich) Granules
PIEZO2
Piezo channels
PIGB
PIGK
Pipecolic acid
Pipestem capillaries
PIP Phosphatase
Piriformis
PITX1
PL-12 antibody
PLA2G6
Plasma exchange
Platin
Plectin
PLEKHG5
Plexin D1
Plexopathy
Brachial
Lumbosacral
Neoplastic
Radiation
PLIN4
PLS
PMA
PMM2
PMP2
PMP-22
PMPCA
PM-Scl
PNKP
PNL
PNPLA2
PNPLA6
POIKTMP
P0 Protein
Podophyllin
POEMS
POGLUT1
Poland syndrome
POLG
POLG2
Polio
POLR:
1C
;
3A
;
3B
;
3K
Polyarteritis nodosa
Polychlorinated biphenyls (PCBs)
Polyglucosan
Polyglucosan body disease
Deposition
Polymyalgia Rheumatica
Polymyositis
Polyneuropathy
POMGNT1
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
PPA2
PRAAS
PRDM12
Prednisone
Pregnancy
PREPL
Pressure Palsies, Hereditary Liability to
Presynaptic proteins
Primary lateral sclerosis
Primary muscular atrophy
Prion
Prion-like domains
(PrLD)
PRKAG:
2
;
3
P
rogressive
E
xternal
O
phthalmoplegia (PEO)
PROMM
Pronator syndrome
Propofol
Proprioception
Proteasome
Protein degradation
Proteoglycans
Proteolipid protein (PLP)
Proximal
Arms - Myopathy
Motor Neuropathy
Sensory Neuropathy
Proximal Myotonic Myopathy (PROMM)
PRUNE1
PSMB
Psoas, hypoplasia
PTCD3
Pterygium, Multiple
PTF1A
PTPLA6
PURA
PYGM
Pyomyositis
PYROXD1
Pyridoxine
Deficiency
Intoxication
Pyruvate carboxylase
Pyruvate dehydrogenase
Q
QRSL1
QT Syndromes
Long
K
+
Channel Disorders
Na
+
Channel Disorders
Short
Quadriceps weakness
Quadrilateral space syndrome
Quadriplegic myopathy, Acute
R
Rabies
Radial nerve
Radiation
Brachial Plexopathy
Lumbar Plexopathy
Myelopathy
Ramsay-Hunt
Rapsyn
Recent revisions
Recruitment
Reducing body myopathies
REEP1
Reflex sympathetic dystrophy
Reflexes, Tendon
Refsum
Relapsing
Renal disease
Renaut bodies
Respiratory Failure
Rett syndrome
RFC1
Rhabdomyolysis
Rheumatoid arthritis
Rhomboid
Ri antibody
Riboflavin
Ribonucleoprotein (RNP)
Riche-Cannieu
RIDDLE syndrome
Rienhoff
Rigid spine
RIIM
Riley-Day
Riluzole
Ringed fiber myopathy
Rippling Muscle Syndrome
Rituximab
Orders
Protocol
Treatment
RMRP
RNA:
Splicing
RNASEH1
RNF170
Ro antibody
ROBO3
Rod Myopathy
Roots
Upper extremity
Lower extremity
Roussy-Levy
Ross syndrome
RRM2B
Rucksack paralysis
Russe
Ryanodine receptors
RYR1
RYR2
RYR3
S
Sacsin
(SACS)
SAE antibody
Salbutamol
Salih myopathy
Salla syndrome
SAMD9L
SANDO
Sarcocystis
Sarcoglycans
Disorders
Sarcoid
Sarcopenia
Sarcotubular
SARM1
Sartorius
Satoyoshi
Saxitoxin
SBMA (X-linked)
SCA
Dominant
Recessive
SCAD
Scapular winging
Scapuloperoneal syndromes
SCAR
Scheie syndrome
Schwann cells
Schwannoma
Schwartz-Jampel
Sciatic nerve
Scleroderma
Scleromyxedema
SCN
:
2A
;
4A
;
9A
Scoliosis
SCO2
SCP2
SCYL1
SCYL2
SDH
SDHA
Stain
SECISBP2
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
Serotonin syndrome
Serratus anterior
SeSAME
SETX
SGOL1
SGPG
SGPL1
SH3TC2
SHMT2
Short QT
Shoulder
Shwachman–Diamond
Shy-Drager
Sickle cell disease
Siderosis
SIFD
SIGMAR1
Silver
Silver syndrome
Sjögren-Larsson
Sjögren's
Skeletal disorders
Skin biopsy
Skin changes
SLC1A4
SLC2A1
SLC17A5
SLC25
SLC25A
SLONM
SMA
Sm antibodies
SMABF
SMAJ
SMA-LED
Small fiber neuropathy
SMARD
SMGMQTL
SMN
SMNA
SMCHD1
Snake venom toxins
SNARE
SNAX1
snRNP
SNX14
SOD1
Sodium Channels
Disorders
Sodium cyanate neuropathy
Solumedrol treatment
Orders
SORD
SOX10
Spanish toxic oil
SPAR
Spastic
Ataxias
(SPAX)
Dystonia
Paraplegias
Spectrins
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
Spurling test
SQSTM1
SRP
SS18L1
SSA
SSBP1
SSc
STAC3
STAHP
Stains: Muscle biopsy
Statins
Myopathy
Neuropathy
Sternotomy
Stiff-person Syndrome
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
SYNE:
1
;
2
Syntrophin
Syphilis
Syringomyelia
Systemic lupus erythematosis
SYT2
T
T1D
(IDDM)
T2D
Ta
TACH
TACO1
Tacrolimus
Tangier disease
Target fibers
Tarsal tunnel
Tarsal tunnel, anterior
TATA binding protein
Taxol neuropathy
Tay-Sachs
TBCD
TBCK
TBK1
TBX5
T-cells
TDP-43
TECPR2
Telbivudine
Telethionin
Tel Hashomer camptodactyly
Telithromycin
Tellurium
Temperature
Cold
Heat
Noxious
Tendon reflexes
Test forms
Tetanus
Tetany
,
EDx
Tethered cord
Tetrodotoxin
TFG
TGF-&beta:
TGM6
Thalidomide neuropathy
Thallium
Thermoanalgesia
Thenar motor neuropathy
Thiamine
Thomsen
Thoracic outlet syndrome
Thymidine kinase
(TK2)
Thymoma
Thyroid
TIA1
Tick paralysis
TIF1γ
TIMM22
Titin
Antibodies
Muscle
TMEM5
TNNT1
TNPO3
TOGARAM1
Tomaculae
Differential diagnosis
Pathology
TOMM70
Tongue
Topoisomerase 3A
TOR1A
TOR1AIP1
Toxic myopathies
Toxic neuropathies
Toxins: Snake venom
Toxoplasmosis
TPM3
Tr antibody
Transforming growth factors β
Transmitters
Transthyretin
Transverse myelitis
Trapezius
TRAPPC11
TRAPS
Treatment strategies
TREM2
Triadin
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
TRIP4
Trisulfated heparin disaccharide
TrkA
TRMU
tRNA synthetase
Antibodies
Trophic factors
Tropical
Ataxic neuropathy
Pyomyositis
Spastic paraparesis
Tropomyosin
Tropomyosin-2
Troponin
Troponin T (Cardiac)
Troyer syndrome
TRP ion channels
TRPV4
TSEN
TS-HDS
TTID
TTR
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
UBA1
(UBE1)
UBA5
UBAP1
Ubiquitin
UBQLN2
Udd
Ulcerative colitis
Ulcero-mutilation
Hereditary neuropathy
Ullrich CMD
Ulnar nerve
UNC13A
UNC45B
Unknowns
UQCC2
UQCRC1
UQCRFS1
Urea cycle
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
Velcade
(Bortezomib)
Venoms: Snake Toxins
Venous insufficiency
Ventricular fibrillation
Vernant's disease
Very long chain acyl-CoA dehydrogenase
Vesicle membrane proteins
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
Vocal cord disorders
Voice, hoarse
Von Hippel-Lindau
VPS13A
VPS53
VWA1
W
Waardenburg
Waldenström's macroglobulinemia
Walker-Warburg
Wallerian degeneration
Wartenberg's sensory neuritis
Weakness, acute
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
Z
ZAK
ZASP
ZC4H2
Z-disk (Z-line)
Zebra body
Zellweger
ZFHX2
Zika
Zimeldine
Zinc
ZMIZ1
Zo
Zoster
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2/17/2021