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