Neuromuscular Diseases
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Rare Disease Foundation
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The Rare Disease Foundation is focused on linking basic science and clinical practice to increase th
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International
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Neuromuscular Diseases
Acid Maltase Deficiency (AMD)
Amyotrophic Lateral Sclerosis (ALS)
Andersen-Tawil Syndrome
Becker Muscular Dystrophy (BMD)
Becker Myotonia Congenita
Bethlem Myopathy
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
Debrancher Enzyme Deficiency
Dermatomyositis (DM)
Distal Muscular Dystrophy (DD)
Duchenne Muscular Dystrophy (DMD)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Endocrine Myopathies
Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)
Finnish (Tibial) Distal Myopathy
Friedreich’s Ataxia (FA)
Fukuyama Congenital Muscular Dystrophy
Glycogenosis
Gowers-Laing Distal Myopathy
Hereditary Inclusion-Body Myositis
Hyperthyroid Myopathy
Hypothyroid Myopathy
Inclusion-Body Myositis (IBM)
Inherited Myopathies
Integrin-Deficient Congenital Muscular Dystrophy
Lactate Dehydrogenase Deficiency
Lambert-Eaton Myasthenic Syndrome (LEMS)
Limb-Girdle Muscular Dystrophy (LGMD)
Merosin-Deficient Congenital Muscular Dystrophy
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)
Nemaline Myopathy
Nonaka Distal Myopathy
Oculopharyngeal Muscular Dystrophy (OPMD)
Paramyotonia Congenita
Pearson Syndrome
Periodic Paralysis
Phosphofructokinase Deficiency
Phosphoglycerate Kinase Deficiency
Phosphoglycerate Mutase Deficiency
Phosphorylase Deficiency
Polymyositis (PM)
Progressive External Ophthalmoplegia (PEO)
Spinal Muscular Atrophy (SMA)
Spinal-Bulbar Muscular Atrophy (SBMA)
Ullrich Congenital Muscular Dystrophy
Welander Distal Myopathy
ZASP-Related Myopathy
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Last listing added:
Aug 15, 2017