Genetic Neuromuscular Disorders

Section 1 Muscular Dystrophies .- Duchenne Muscular Dystrophy.- Duchenne Muscular Dystrophy carrier.- Becker Muscular Dystrophy.- Emery-Dreifuss Muscular Dystrophy type 1.- Emery-Dreifuss Muscular Dystrophy type 2.- Limb Girdle Muscular Dystrophy type 1B.- Limb Girdle Muscular Dystrophy type 1C.- Limb Girdle Muscular Dystrophy type 1F.- Limb Girdle Muscular Dystrophy type 2A.- Limb Girdle Muscular Dystrophy type 2B.- Limb Girdle Muscular Dystrophy type 2C.- Limb Girdle Muscular Dystrophy type 2D.- Limb Girdle Muscular Dystrophy type 2E.- Limb Girdle Muscular Dystrophy type 2F.- Limb Girdle Muscular Dystrophy type 2I.- Limb Girdle Muscular Dystrophy type 2K.- Limb Girdle Muscular Dystrophy type 2N.- Congenital Muscular Dystrophy type 1A.- Congenital Muscular Dystrophy type 1C.- Congenital Muscular Dystrophy with rigid spine.- Congenital Muscular Dystrophy with integrin-alpha-7 deficiency.- Congenital Muscular Dystrophy, Ullrich type.- Bethlem myopathy.- Facio Scapulo Humeral Muscular Dystrophy type 1A.- Facio Scapulo Humeral Muscular Dystrophy type 2.- Section 2: Congenital Myopathies .- Congenital Multi-Mini-Core Myopathy.- Congenital Central-Core Myopathy with Malignant Hyperthermia.- Congenital Centronuclear Myopathy type 1.- Congenital Hyaline Body Myopathy.- Congenital Myotubular Myopathy.- Congenital Nemaline Myopathy type 2.- Congenital Fiber Type Disproportion type 1.- Congenital Fiber Type Disproportion.- Congenital Myofibrillar Myopathy type 1.- Congenital Myofibrillar Myopathy type 6.- Congenital Tubular Aggregate Myopathy.- Hereditary Inclusion Body Myopathy type 2.- Section 3: Ion Channel Disorders .- Myotonic Dystrophy type 1, Steinert Disease.- Congenital Myotonic Dystrophy.- Myotonic Dystrophy type 2, Proximal Myotonic Myopathy.- Congenital Myotonia, Thomsen Disease.- Hyperkalemic Periodic Paralysis.- Hypokalemic Periodic Paralysis type 1.- Slow-channel Congenital Myasthenic Syndrome.- Congenital Myasthenic Syndrome.- Brody Disease.- Section 4: Metabolic Myopathies .- Glycogenosis type 2, Pompe Disease.- Glycogenosis type 3, Cori-Forbes Disease.- Glycogenosis type 5, McArdle Disease.- Danon Disease.- Kearns-Sayre Syndrome.- Chronic Progressive External Ophthalmoplegia.- MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like) .- Leigh Syndrome due to COX Deficiency.- Mitochondrial Encephalopathy with COX Deficiency.- Coenzyme Q10 Deficiency.- Multiple Symmetrical Lipomatosis.- NARP (Neuropathy, Ataxia, Retinitis Pigmentosa) .- SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) .- Systemic Primary Carnitine Deficiency.- Neutral Lipid Storage Disease with Ichthyosis.- Neutral Lipid Storage Disease with Myopathy.- Multiple Acyl-CoA Dehydrogenase Deficiency.- Carnitine-Palmitoyl-Transferase-II Deficiency.- Niemann-Pick Disease type C1.- Section 5: Neurogenic Disorders .- Spinal Muscular Atrophy type 1, Werdnig-Hoffmann Disease.- Spinal Muscular Atrophy type 2.- Spinal Muscular Atrophy type 3, Kugelberg-Welander Disease.- Spinal Bulbar Muscular Atrophy, Kennedy Disease.- Charcot-Marie-Tooth Disease type 1A.- Charcot-Marie-Tooth Disease type 1B.- Charcot-Marie-Tooth Disease neuronal type.- Charcot-Marie-Tooth Disease type 4A.- Charcot-Marie-Tooth Disease with pyramidal features.- Charcot-Marie-Tooth Disease type X1.- Distal Spinal Muscular Atrophy.- Hereditary Neuropathy with Pressure Palsies.- Friedreich Ataxia.- Spastic Ataxia, Charlevoix-Saguenay type.- Ataxia-Telangiectasia, Louis-Bar Syndrome.- Spastic Paraparesis type 4.- Spastic Paraparesis type 7.- Optic Atrophy Plus Syndrome.- Amyotrophic Lateral Sclerosis type 1.- Amyotrophic Lateral Sclerosis.