Neuromuscular Disease List

A

Acid Maltase Deficiency (AMD)

Amyotrophic Lateral Sclerosis (ALS)

Andersen-Tawil Syndrome

B

Becker Muscular Dystrophy (BMD)

Becker Myotonia Congenita

Bethlem Myopathy

Bulbospinal Muscular Atrophy (Spinal-Bulbar Muscular Atrophy)

C

Carnitine Deficiency

Carnitine Palmityl Transferase Deficiency (CPT Deficiency)

Central Core Disease (CCD)

Centronuclear Myopathy

Charcot-Marie-Tooth Disease (CMT)

Congenital Muscular Dystrophy (CMD)

Congenital Myasthenic Syndromes (CMS)

Congenital Myotonic Dystrophy

Cori Disease (Debrancher Enzyme Deficiency)

D

Debrancher Enzyme Deficiency

Dejerine-Sottas Disease (DSD)

Dermatomyositis (DM)

Distal Muscular Dystrophy (DD)

Duchenne Muscular Dystrophy (DMD)

Dystrophia Myotonica (Myotonic Muscular Dystrophy)

E

Emery-Dreifuss Muscular Dystrophy (EDMD)

Endocrine Myopathies

Eulenberg Disease (Paramyotonia Congenita)

F

Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)

Finnish (Tibial) Distal Myopathy

Forbes Disease (Debrancher Enzyme Deficiency)

Friedreich’s Ataxia (FA)

Fukuyama Congenital Muscular Dystrophy

G

Glycogenosis Type 10

Glycogenosis Type 11

Glycogenosis Type 2

Glycogenosis Type 3

Glycogenosis Type 5

Glycogenosis Type 7

Glycogenosis Type 9

Gowers-Laing Distal Myopathy

H

Hauptmann-Thanheuser MD (Emery-Dreifuss Muscular Dystrophy)

Hereditary Inclusion-Body Myositis

Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease)

Hyperthyroid Myopathy

Hypothyroid Myopathy

I

Inclusion-Body Myositis (IBM)

Inherited Myopathies

Integrin-Deficient Congenital Muscular Dystrophy

K

Kennedy Disease (Spinal-Bulbar Muscular Atrophy)

Kugelberg-Welander Disease (Spinal Muscular Atrophy)

L

Lactate Dehydrogenase Deficiency

Lambert-Eaton Myasthenic Syndrome (LEMS)

Limb-Girdle Muscular Dystrophy (LGMD)

Lou Gehrig’s Disease (Amyotrophic Lateral Sclerosis)

M

McArdle Disease (Phosphorylase Deficiency)

Merosin-Deficient Congenital Muscular Dystrophy

Metabolic Diseases of Muscle

Mitochondrial Myopathy

Miyoshi Distal Myopathy

Motor Neurone Disease

Muscle-Eye-Brain Disease

Myasthenia Gravis (MG)

Myoadenylate Deaminase Deficiency

Myofibrillar Myopathy

Myophosphorylase Deficiency

Myotonia Congenita (MC)

Myotonic Muscular Dystrophy (MMD)

Myotubular Myopathy (MTM or MM)

N

Nemaline Myopathy

Nonaka Distal Myopathy

O

Oculopharyngeal Muscular Dystrophy (OPMD)

P

Paramyotonia Congenita

Pearson Syndrome

Periodic Paralysis

Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease)

Phosphofructokinase Deficiency

Phosphoglycerate Kinase Deficiency

Phosphoglycerate Mutase Deficiency

Phosphorylase Deficiency

Phosphorylase Deficiency

Polymyositis (PM)

Pompe Disease (Acid Maltase Deficiency)

Progressive External Ophthalmoplegia (PEO)

R

Rod Body Disease (Nemaline Myopathy)

S

Spinal Muscular Atrophy (SMA)

Spinal-Bulbar Muscular Atrophy (SBMA)

Steinert Disease (Myotonic Muscular Dystrophy)

T

Tarui Disease (Phosphofructokinase Deficiency)

Thomsen Disease (Myotonia Congenita)

U

Ullrich Congenital Muscular Dystrophy

W

Walker-Warburg Syndrome (Congenital Muscular Dystrophy)

Welander Distal Myopathy

Werdnig-Hoffmann Disease (Spinal Muscular Atrophy)

Z

ZASP-Related Myopathy