SE-ATLAS

Glycogen storage disease due to muscle beta-enolase deficiency Morvan syndrome Juvenile-onset Steinert myotonic dystrophy Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Infantile myofibromatosis Tubular aggregate myopathy Congenital myasthenic syndromes with glycosylation defect Juvenile amyotrophic lateral sclerosis Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Ullrich congenital muscular dystrophy Proximal spinal muscular atrophy Congenital muscular dystrophy type 1B Myasthenia gravis Congenital myasthenic syndrome Oculopharyngodistal myopathy Macrophagic myofasciitis Antisynthetase syndrome Myofibrillar myopathy Centronuclear myopathy Distal myopathy Vocal cord and pharyngeal distal myopathy Congenital myopathy with excess of thin filaments GNE myopathy Distal myopathy, Welander type Megaconial congenital muscular dystrophy Desminopathy Eosinophilic fasciitis Autosomal dominant proximal spinal muscular atrophy Proximal myotonic myopathy Distal myotilinopathy Nemaline myopathy Alpha-crystallinopathy Postsynaptic congenital myasthenic syndromes Myosclerosis Late-onset distal myopathy, Markesbery-Griggs type Tibial muscular dystrophy Bethlem muscular dystrophy Synaptic congenital myasthenic syndromes Brody myopathy Presynaptic congenital myasthenic syndromes Inclusion body myositis Potassium-aggravated myotonia Early-onset myopathy with fatal cardiomyopathy Thomsen and Becker disease Spinal muscular atrophy with respiratory distress type 1 Muscular lipidosis Hereditary myopathy with lactic acidosis due to ISCU deficiency Muscular glycogenosis Young adult-onset distal hereditary motor neuropathy Cyprus facial-neuromusculoskeletal syndrome Polyglucosan body myopathy type 1 Infantile-onset X-linked spinal muscular atrophy Myotonic syndrome O'Sullivan-McLeod syndrome Congenital myotonia Native American myopathy Autosomal recessive limb-girdle muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy Periodic paralysis Arthrogryposis due to muscular dystrophy Muscular tumor Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Autosomal dominant spastic paraplegia type 17 Madras motor neuron disease Viral myositis Infectious, fungal or parasitic myopathy Bacterial myositis Monomelic amyotrophy Parasitic myositis Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Neurogenic scapuloperoneal syndrome, Kaeser type Fungal myositis Congenital myopathy, Paradas type Juvenile overlap myositis Desmin-related myopathy with Mallory body-like inclusions Juvenile idiopathic inflammatory myopathy Spinal muscular atrophy associated with central nervous system anomaly Muscular dystrophy Skeletal muscle disease Isaacs syndrome Idiopathic inflammatory myopathy Polyglucosan body myopathy type 2 Acquired neuromuscular junction disease Genetic motor neuron disease Pontocerebellar hypoplasia type 1 Distal myopathy with early respiratory muscle involvement Distal myopathy with anterior tibial onset Rippling muscle disease with myasthenia gravis Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Distal hereditary motor neuropathy type 1 Thyrotoxic periodic paralysis Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to dystroglycanopathy Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Congenital muscular dystrophy due to LMNA mutation Neuromuscular disease Hereditary myopathy with early respiratory failure Genetic skeletal muscle disease Myotonic dystrophy Congenital muscular dystrophy with hyperlaxity Distal hereditary motor neuropathy type 7 Transient neonatal myasthenia gravis Spheroid body myopathy Glycogen storage disease due to acid maltase deficiency Bulbospinal muscular atrophy of adult Glycogen storage disease due to muscle phosphofructokinase deficiency Intellectual disability-developmental delay-contractures syndrome Miyoshi myopathy Myotonia fluctuans Malignant hyperthermia of anesthesia Autosomal dominant childhood-onset proximal spinal muscular atrophy Muscle filaminopathy Hereditary continuous muscle fiber activity Reducing body myopathy Zebra body myopathy Pontocerebellar hypoplasia type 2 Benign Samaritan congenital myopathy Intellectual disability-myopathy-short stature-endocrine defect syndrome Muscular dystrophy, Selcen type Amyotrophic lateral sclerosis type 4 Muscular channelopathy Autosomal dominant congenital benign spinal muscular atrophy Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Polymyositis Finnish upper limb-onset distal myopathy Congenital lethal myopathy, Compton-North type Laing early-onset distal myopathy Adult-onset distal myopathy due to VCP mutation Distal hereditary motor neuropathy type 2 Oculopharyngeal muscular dystrophy Focal myositis Glycogen storage disease due to LAMP-2 deficiency Distal hereditary motor neuropathy, Jerash type Idiopathic camptocormia Infantile-onset ascending hereditary spastic paralysis Autosomal dominant distal myopathy Non-dystrophic myopathy Juvenile myasthenia gravis Trichinellosis Primary lateral sclerosis Bulbospinal muscular atrophy Glycogen storage disease due to muscle glycogen phosphorylase deficiency Generalized bulbospinal muscular atrophy Lambert-Eaton myasthenic syndrome Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Acetazolamide-responsive myotonia Embryonal rhabdomyosarcoma Congenital myopathy with cores BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Riboflavin transporter deficiency Lower motor neuron syndrome with late-adult onset Proximal spinal muscular atrophy type 3 Congenital myopathy Kennedy disease Metabolic myopathy due to lactate transporter defect Hypokalemic periodic paralysis Hyperkalemic periodic paralysis Andersen-Tawil syndrome Autosomal recessive distal hereditary motor neuropathy Neuromuscular junction disease Spinal atrophy-ophthalmoplegia-pyramidal syndrome Acquired motor neuron disease Alpha-B crystallin-related late-onset myopathy Tel Hashomer camptodactyly syndrome Immune-mediated necrotizing myopathy Overlap myositis Autosomal recessive lower motor neuron disease with childhood onset Distal anoctaminopathy Laminin subunit alpha 2-related congenital muscular dystrophy Limb-girdle muscular dystrophy Facioscapulohumeral dystrophy Distal hereditary motor neuropathy type 5 Hereditary inclusion body myopathy type 4 Schwartz-Jampel syndrome X-linked distal spinal muscular atrophy type 3 Congenital fibrosis of extraocular muscles Progressive muscular dystrophy Non-dystrophic myopathy with collagen 6 anomaly Myopathie à inclusion Syndrome de dystrophie musculaire congénitale-cataracte infantile-hypogonadisme Arthrogrypose multiple congénitale myogénique autosomique récessive Myopathie à casquette Glycogénose par déficit en enzyme débranchante Myopathie avec configuration hexagonale des tubules Myopathie avec autophagie excessive liée à l'X Polymyosite juvénile Syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes Syndrome de King-Denborough Rhabdomyosarcome alvéolaire Amyotrophie spinale proximale autosomique dominante de l'adulte Amyotrophie spinale proximale autosomique dominante de l'enfance associée à DYNC1H1 Myopathie à empreintes digitales Rippling muscle disease Dystrophie musculaire congénitale Amyotrophie spinale proximale type 4 Myopathie congénitale avec disproportion des types de fibres musculaires Paramyotonie d'Eulenburg Neuropathie motrice distale héréditaire autosomique dominante Myopathie d'origine métabolique Maladie génétique de la jonction neuromusculaire Maladie du motoneurone Glycogénose par déficit en phosphorylase kinase musculaire Dystrophie musculaire congénitale par déficit en intégrine alpha-7 Dermatomyosite Paralysie périodique génétique Myopathie distale précoce associée à KLHL9 Myopathie distale précoce associée à la nébuline Myxofibrosarcome Dystrophie musculaire de Duchenne et Becker Rhabdomyosarcome Dystrophie myotonique de Steinert Amyotrophie spinale distale type 3 Myopathie liée à l'X avec atrophie des muscles posturaux Sclérose latérale amyotrophique Myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains Sclérose latérale primitive juvénile Myopathie distale autosomique récessive Myasthénie auto-immune de l'adulte Syndrome de dystrophie musculaire-substance blanche cérébrale spongieuse Poliomyélite Myopathie à spirales cylindriques Glycogénose par déficit en enzyme branchante Amyotrophie bulbospinale de l'enfant Syndrome post-poliomyélite Amyotrophie spinale proximale type 1 Myotonie permanente Myopathie inflammatoire avec abondance de macrophages Myosite éosinophile idiopathique Syndrome de neuropathie périphérique-myopathie-raucité de la voix-surdité Myopathie avec surcharge en myosine Glycogénose par déficit en phosphoglycérate mutase Syndrome d'agénesie du corps calleux-neuropathie Amyotrophie spinale proximale type 2 Syndrome de la colonne raide Dermatomyosite juvénile