Click the listed NMDs below to learn more:
Congenital Muscular Dystrophies
Collagenopathies, Dystroglycanopathies, Laminopathies, Merosinopathies, SELENON/SEPN1, etc.
Distal Myopathies
Udd myopathy/Tibial myopathy, Nonaka myopathy (Inclusion body myopathy (inherited), GNE Myopathy (Nonaka Distal Myopathy), Laing Distal Myopathy (Distal Myopathy Type 1), Welander Distal Myopathy.
Genetic Disorders of the Neuromuscular Junction
Congenital Myasthenic Syndromes (CMS) (including defects in NMJ formation, maintenance, and synaptopathies), Lambert-Eaton Myasthenic Syndrome (LEMS), Myasthenia Gravis (MG).
Genetic Lower Motor Neuron Disorders
dHMN/dSMA dominant, dHMN/dSMA recessive, dHMN/dSMA X-linked, Proximal SMA dominant, Proximal SMA recessive, Spinobulbar Muscular Atrophy (SBMA).
Genetic Peripheral Neuropathies
Amyloid peripheral neuropathy, Andermann Syndrome / Agenesis of the corpus callosum with peripheral neuropathy, Ataxia with vitamin E deficiency, Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), Charcot-Marie-Tooth Disease (CMT, all subtypes), Friedreich Ataxia (FA), Neuropathy/Hereditary Motor and Sensory Neuropathy, Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), Giant Axonal Neuropathy, Hereditary neuralgic amyotrophy, Hereditary Sensory and Autonomic Neuropathies (HSAN), Tangier disease.
Immune-Mediated Myopathies/Myositis
Phosphofructokinase deficiency, Dermatomyositis, Immune-mediated necrotizing myositis, Sporadic inclusion body myositis (sIBM), Immune-Mediated Necrotizing Myopathy (IMNM), Polymyositis, Vasculitis related myopathies.
Immune-Mediated Peripheral Neuropathies
Antibody mediated paraneoplastic neuropathy, Critical illness polyneuropathy/myopathy, Chronic inflammatory Demyelinating Polyradiculoneuropathy (CIDP), Guillain-Barré Syndrome (GBS), Neuropathy due to monoclonal gammopathy, Parsonage-Turner syndrome.
Metabolic Myopathies
Carnitine Palmitoyltransferase II (CPT II) Deficiency, McArdle Disease (Glycogen Storage Disease Type V), Myoadenylate deaminase deficiency, Pompe Disease (Glycogen Storage Disease Type II), Other Glycogen storage disease(s).
Muscular Ion Channel Disorders
Andersen-Tawil Syndrome, Brody myopathy, Genetic periodic paralysis, Myotonia Congenita, Neuromyotonia Isaac syndrome, Schwartz-Jampel Syndrome, Paramyotonia cCngenita, Potassium Aggravated Myotonia, Thomsen / Becker Myotonia.
Motor Neuron Disorders
Amyotrophic Lateral Sclerosis (ALS), Primary Lateral Sclerosis (PLS), Progressive Muscular Atrophy (PMA), Progressive Bulbar Palsy.
Progressive Muscular Dystrophies
Becker Muscular Dystrophy (BMD), Duchenne Muscular Dystrophy (DMD), Emery-Dreifuss Muscular Dystrophy (EDMD), Facioscapulohumeral Muscular Dystrophy (FSHD), Limb-Girdle Muscular Dystrophies (LGMD, all subtypes), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2 (DM2), Oculopharyngeal Muscular Dystrophy (OPMD).
Satellite Cell-Opathies
Affecting directly muscle stem cells, MYOSCO
Other Myopathies & Wasting Conditions
Myofibrillar myopathies, Reducing body myopathy, Hereditary distal arthrogryposis multiplex congenita, Rippling muscle disease, Vacuolar aggregate myopathy, Skeletal Muscle Atrophy (including Sarcopenia, Cachexia, and Disuse Atrophy).
