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A A-wave AAA syndrome α-Actinin AAMR AARS AARS2 Aarskog–Scott Abattoir ABC ABCC9 αB-crystallin Abdominal muscles ABHD12 ABHD16A A-β-lipoproteinemia Absent muscles ACAD ACAD9 ACADVL Acanthosis Nigricans Acetylcholine Acetylcholine Receptor   Antibodies   Disorders   Epsilon subunit   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 ADCK: 2; 3; 4 Adductor Adenosine   Deaminase 2 (ADA2)   Receptors Adhalin Adhesion molecules Adie ADLD ADOAC ADPRHL2 Adrenal Adrenomyeloneuropathy ADSSL1 α-Dystroglycan   Disorders 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 ALG14 Allgrove syndrome Allodynia All-Trans-Retinoic Acid Allyl chloride Alpers-Huttenlocher α-Methylacyl-CoA racemase Almitrine neuropathy Alpers ALPK3 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   Hereditary   Sporadic 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   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 Aquporin-4 (AQP4) Arachnoiditis Argininemia Argininosuccinate lyase Arm predominance   Myopathy   Neuropathy Arnold-Chiari Malformation Aromatase inhibitor ARS   Antibodies   Cytoplasmic   Mitochondrial ARSA ARSACS Arsenic Arthrogryposis Arts 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 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 ATXPC Autonomic Disorders   Syndromes   Cardiac   Sweating   Hypotension   Urinary   Sexual   Ocular 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 B12, vitamin B3GALNT2 B3GNT1 B4GALNT1 BACM BAG3 Bailey-Bloch Baltic myoclonus Bariatric surgery Barium Barnes's myopathy Barth syndrome Basal Lamina: Muscle Baseball Basement membrane 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 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 Birk Barel (KIS) Björnstad syndrome Black widow spider toxin Blepharophimosis 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 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 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) 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 Caveolin-3 Cayman ataxia 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 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 CIMDAG CIPO cis-platinum neuropathy CISP CISS CK CLCN Cleidocranial dysplasia Clevudine CLN3 Club foot CNS antibody CMT CNBP 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   Allodynia   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 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 COQ7 Cores Cores + Rods Cortactin Corticosteroid   Disorders   Treatment Cough Cowchock Syndrome Cowden COVID-19 COX: 4I1; 4I2; 5A; 6A1; 6A2; 7B; 8A; 10; 15; 16; 20; FA4 COXPD CPEO CPLANE1 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 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 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 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 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 DM-VP DNA   Repair disorders   Repeat disorders DNA2 DNAJ   B2; B4 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 DRP1 Drug-induced neuropathies Drugs: Immunomodulation DST 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 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 eIF2B EJ antibody Electron transport flavoprotein (ETF) Elejalde ELOVL1 ELOVL4 ELP1 EMARDD 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 ETFDH Ethambutol neuropathy Ethanol: Myopathy; Neuropathy ETHE1 Ethionamide neuropathy Ethylene glycol Ethylene oxide Etoposide Evaluation of neuromuscular disease: Guidelines Excessive Autophagy Excitation-Contraction Exosome (EXOSC) EXOC2 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 FAR1 Farber lipogranulomatosis Fasciculations Fasciitis Fatigue   Chronic   Differential Dx Fatty acid amide hydrolase Fatty acid oxidation Fatty acid transport Fazio-Londe FBN2 FBXL4 FBXO38 FDX1L (FDX2) FDXR Femoral nerve FEPS: 1; 2; 3 Fe-S Fetal Akinesia FEWDON FGFR3: Antibody; Protein 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 FIG4 Filamin A Filamin C Finger extension Fingerprint body Finnish encephalopathy Finger extension FITM2 FKRP FKTN FLAD1 Flecanide Flier's Syndrome FLNC Fludarabine FLVCR1 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 GATAD1 GATB GATC Gaze palsy: 1; 2 GBE1 GBF1 GBS GDAP1 GDAP2 Gelsolin Gemcitabine GEMIN5 Gene panels Germanium myopathy Gerstmann-Straüssler-Schienker GFAP GFER GFM2 GFPT1 GGPS1 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 Glycosylation   Deficiency   Disorders     Muscle-Eye-Brain syndromes GM1   Antibodies   Ganglioside   MMN GM2 gangliosidosis GMPPA GMPPB GNB4 GNE Gold neuropathy Goldberg-Shprintzen GOLGA2 Golgi Gomez-Lopez-Hernandez (GLHS) 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 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 HLD: 7, 8, 11, 21 HMERF HMG-CoA Reductase (HMGCR)   Antibodies   Inhibitors 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 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 Hypoventilation, Central I IBM   IBMPFD   sIBM Ichthyosiform erythroderma ICI IFIH1 Idiopathic neuropathy Ifosfamide neuropathy IFT74 IgG4 IGHMBP2 IgM MGUS IKSHD Illustrations: Index IMAM Imatinib 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 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 JAG2 Jensen syndrome JMP syndrome Jo-1   Myopathy Joint   Contractures   Hypermobility Joubert syndromes Journal Club K Kaeser Kallman syndrome: 2; 6; Deafness KANK1 KARS KBTBD13 KCN KCNK9 (KIS) Kearns-Sayre Kelch disorders Kennedy's Syndrome KIDINS220 KIF disorders KIF26B KIF5A KIFBP Kinesins King-Denborough KLHL40 KLHL41 Klippel-Feil Klippel-Trenaunay-Weber KMT2B Köbberling-Dunnigan Syndrome Konzo KPNA3 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 LAS1L Lateral femoral cutaneous nerve Latrotoxin LBD3 LBSL LBX1 LCAD LCCS LCHADD LDB3 LDHA Lead Leber's Optic Atrophy Leflunomide Leigh Syndrome LEMS Leprosy 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 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 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 Magnesium Malignant Hyperthermia Malignant PN Sheath tumors MAP3K20 Maple syrup urine disease MAPT Marine toxins Marinesco-Sjögren Markesbery Martin-Gruber anastomosis MASA Syndrome MASNS Mast cells 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 MDH2 Mechanotransduction MECP2 protein Medial brachial fascial compartment Median nerve MEDNIK MEF2 family MED17 MED27 Megaconial 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 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 MLASA MLIP MMACHC 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 MPD MPP1 M-proteins MPV17 MPZ MRI, Muscle patterns MRM2 MRP proteins MSCAE MSTO1 Msx1 MT-ATP: Disorders, Proteins MTCO proteins 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   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 MYH14 Myhre Syndrome MYL1 MYL2 MYLPF MYMK MYO18B Myoadenylate deaminase deficiency MyoD Myoedema Myofibrillar (Desmin) myopathies Myogenesis Myogenic determination factors Myogenin (Myf4) Myoglobinopathy 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 Myxedema N Nakajo-Nishimura NALCN NARP Native American Myopathy Navajo neuropathy + Arthropathy Navajo neuropathy + Corneal ulcers NBIA ND proteins NDAXOA NDUF NDUFAF Nebulin Neck weakness   Posterior Necklace body Necrosis   Myopathies NEDAHM NEDCAM NEDHAHM NEDLAS NEFH NEFL NEK1 Nemaline Rod Myopathy NEMF Neonatal Perifascicular Myopathy Neoplasm, Nerve NERIB Neuregulin 1 (NRG1) Nerve Biopsy Nerves   Normal   Upper extremity   Lower extremity NESCAVS Nesprins: 1; 2 Neuralgic Amyotrophy Neuroacanthocytosis Neuroaxonal Dystrophy Neurofascin   Antibody   Mutations Neurofibroma Neurofibromatosis: 1; 2 Neurofilaments   CSF   Disorders   Motor neuron disease (NEFH) Neurofilament antibodies 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 NGFB NGLY1 n-Hexane Niemann-Pick, Type C NIID NIPA1 Nitrofurantoin neuropathy Nitrous oxide neuropathy Nivolumab NMNAT2 NMOAS NO Node of Ranvier Nodopathies Noggin Nonaka distal myopathy 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 NUDT2 NUP88 NUS1 NUTM2B-AS1 NXP-2 antibody O O'Sullivan-McLeod syndrome OBSCN Obturator nerve Occupations Oculomotor apraxia Oculopharyngeal Muscular Dystrophy Oculopharyngodistal myopathy OGDHL Ohdo OMIM Ondine Onion bulbs OPA OPA1 OPDM Opioids Ophthalmoplegia OPMD OPML1 Opsoclonus-Myoclonus Optic Nerve Optic neuropathy: Hereditary Optineurin (OPTN) ORAI1 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     Opioids   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 PAX3 PAX6 PAX7 PCA-2 antibody PCARP PCH PCWH PCYT2 PDHA1 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 PFN1 PGAM2 PGC-1α PHARC Phenylketonuria Phenytoin neuropathy PHKA1 Phosphofructokinase, M subunit Phosphoglucomutase Phosphoglycerate Kinase Phosphoglycerate Mutase, M subunit Phosphoinositide disorders Phospholipase A2 proteins Phospholipid antibodies Phosphorylase (McArdle's) Phosphorylase b Kinase Phrenic Physical examination Pi (Reich) Granules PI4Ka PIEZO2 Piezo channels PIGB PIGK PIGY Pipecolic acid Pipestem capillaries PIP Phosphatase Piriformis PITRM1 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 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 Progressive External Ophthalmoplegia (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) PRUNE1 PSAT1 PSMB PSMC3 Psoas, hypoplasia PTCD3 Pterygium, Multiple PTF1A PTPLA6 PURA PUS1 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 Quarter horse R RAB3GAP2 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 Respiratory Failure Rett syndrome RFC1 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 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 RPIA RPL3L 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 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; 9A Scoliosis SCO2 SCP2 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 Serotonin syndrome Serratus anterior SeSAME SETX SFXN4 SGOL1 SGPG SGPL1 SH3TC2 SHH SHMT2 Short QT Shoulder Shwachman–Diamond Shy-Drager 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 SLC5A6 SLC12A6 SLC17A5 SLC22A5 SLC25 SLC25A SLC35 SLC52A3 SLONM SMA Sm antibodies SMABF SMAD2 SMAD4 SMADIP1 SMAJ SMA-LED Small fiber neuropathy SMARD SMGMQTL SMN SMNA SMCHD1 SMPX Snake venom toxins SNAP25 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 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 Spurling test SQSTM1 SRP SS18L1 SSA SSBP1 SSc STAC3 STAHP Stains: Muscle biopsy Statins   Myopathy   Neuropathy Sternotomy 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 TBCK TBK1 TBP 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 Thymus Thyroid TIA1 Tibial nerve Tick paralysis TIF1γ TIMM22 Titin   Antibodies   Muscle TK2 TMEM TMEM5 TMEM43 TMEM63C TMEM218 TMEM240 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 TPSAB1 Tr antibody Transforming growth factors β Transmitters Transthyretin Transverse myelitis Trapezius TRAPPC11 TRAPS Treatment strategies TREK TREM2 Tremor, Myopathic TRESK 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 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 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 UBE3C UBQLN2 UCHL1 Udd Ulcerative colitis Ulceromutilation   Hereditary neuropathy Ullrich CMD Ulnar nerve UNC13A UNC45B Unknowns UQCC2 UQCRC1 UQCRFS1 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 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   B12 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 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 YOBELN Z ZAK ZASP ZC4H2 Z-disk (Z-line)   Streaming Zebra body Zellweger ZFHX2 Zika Zimeldine Zinc ZMIZ1 Zo Zoster Return to Neuromuscular Home Page 6/22/2022