SE-ATLAS

Myasthenia gravis Amyotrophic lateral sclerosis Hereditary spastic paraplegia Polymyositis Congenital myasthenic syndrome Mitochondrial myopathy Refsum disease Muscular dystrophy Late-onset Steinert myotonic dystrophy Autosomal dominant myoglobinuria Hereditary sensory and autonomic neuropathy type 6 Childhood-onset Steinert myotonic dystrophy Morvan syndrome Juvenile-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy Tubular aggregate myopathy Lewis-Sumner syndrome Hereditary sensory and autonomic neuropathy type 1 Myopathy and diabetes mellitus Mitochondrial myopathy-lactic acidosis-deafness syndrome MELAS Mitochondrial myopathy and sideroblastic anemia MERRF Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Congenital myasthenic syndromes with glycosylation defect EMILIN-1-related connective tissue disease Adenosine monophosphate deaminase deficiency Isolated complex I deficiency Progressive muscular atrophy Guillain-Barré syndrome Juvenile amyotrophic lateral sclerosis Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Ullrich congenital muscular dystrophy Congenital insensitivity to pain-anosmia-neuropathic arthropathy Congenital muscular dystrophy type 1B Becker muscular dystrophy Congenital muscular dystrophy type 1D Duchenne muscular dystrophy X-linked centronuclear myopathy Central core disease Multiminicore myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with excess of thin filaments GNE myopathy Desminopathy Non-paraneoplastic sensory ganglionopathy Distal myotilinopathy Postsynaptic congenital myasthenic syndromes Myosclerosis Late-onset distal myopathy, Markesbery-Griggs type Tibial muscular dystrophy Synaptic congenital myasthenic syndromes GMPPB-related limb-girdle muscular dystrophy R19 Bethlem muscular dystrophy Presynaptic congenital myasthenic syndromes Paraneoplastic sensory ganglionopathy Potassium-aggravated myotonia Acute motor and sensory axonal neuropathy Acute inflammatory demyelinating polyradiculoneuropathy Miller Fisher syndrome Acute motor axonal neuropathy Myotonic syndrome Hereditary thermosensitive neuropathy Complex hereditary spastic paraplegia Pure hereditary spastic paraplegia Congenital myotonia Hereditary neuropathy with liability to pressure palsies Periodic paralysis Cramp-fasciculation syndrome Hereditary motor and sensory neuropathy Juvenile idiopathic inflammatory myopathy Paramyotonia congenita of Von Eulenburg Idiopathic inflammatory myopathy Progressive hemifacial atrophy X-linked Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1B Dermatomyositis Autosomal dominant Charcot-Marie-Tooth disease type 2 Infectious disease with peripheral neuropathy Myositis, fokale Myotone Dystrophie Muskeldystrophie, progressive Hereditäre spastische Paraplegie, reine oder komplexe Juvenile Myasthenia gravis Transiente neonatale Myasthenia gravis Glykogenose Typ 2 Chronische inflammatorische demyelinisierende Polyneuropathie Post-Poliomyelitis-Syndrom Trochlearislähmung, kongenitale Motoneuronkrankheit Syndrom der kombinierten hyperaktiven Dysfunktion der kranialen Nerven Okulomotoriusparese, kongenitale Trigeminusneuralgie Geburtstraumatische Läsion des Plexus brachialis, nicht-heilende Ramsay-Hunt-Syndrom Muskeldystrophie, kongenitale Myopathie, kongenitale Dermatomyositis, juvenile Neuropathie, distale hereditäre motorische Guillain-Barré-Syndrom, Variante Neuropathie, hereditäre motorisch-sensorische, Typ 6 Friedreich-Ataxie Dejerine-Sottas-Syndrom Brody-Myopathie Multiples mitochondriales DNA-Deletionssyndrom durch DGUOK-Mangel des Erwachsenen Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel Polyneuropathie, axonale, mit assoziierter IgG/IgM/IgA monoklonaler Gammopathie Hereditäre sensorische Neuropathie-sensorineurale Schwerhörigkeit-Demenz-Syndrom Ophthalmoplegie, chronische externe progressive, mit mitochondrialer Myopathie, adulte Form Polyneuropathie mit monoklonaler IgM-Gammopathie mit Anti-MAG Multifokale motorische Neuropathie Progressive Bulbärparalyse des Kindesalters Motoneuron-Krankheit Madras Mitochondriale Myopathie-zerebelläre Ataxie-Pigmentretinopathie-Syndrom Amyotrophie, monomelische Neurogenes scapulo-peroneales Syndrom Typ Kaeser Multiples Pterygium-maligne Hyperthermie-Syndrom TMEM70-abhängige mitochondriale Enzephalokardiomyopathie Muskeldystrophie Typ Selcen Kleinhirnataxie mit peripherer Neuropathie Kongenitale Myopathie mit internen Nuclei und atypischen Kernen Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1E Kongenitale Myopathie mit Integrin-alpha-7-Mangel Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani Myopathie, zentronukleäre, autosomal-rezessive Defekt des mitochondrialen trifunktionalen Proteins Myopathie, letale, kongenitale, Typ Compton-North Hereditäre Einschlusskörperchenmyopathie - Gelenkkontrakturen - Ophthalmoplegie Neurolymphomatose Neuropathie mit Schwerhörigkeit Polyneuropathie, demyelinisierende inflammatorische subakute Duchenne- und Becker-Muskeldystrophie Gliedergürtelmuskeldystrophie Muskeldystrophie, fazio-skapulo-humerale Neuropathie, distale hereditäre motorische, Typ 5 Myopathie mit fataler Kardiomyopathie, früh-beginnende Form Trigeminusanästhesie, kongenitale CANOMAD-Syndrom Neuropathie, distale kongenitale motorische, des jungen Erwachsenen RFVT2-assoziierte Riboflavin-Transporter-Defizienz Neuropathie, autonome hereditäre sensorische, Typ 4 Riesenaxon-Neuropathie Succinat-Coenzym-Q-Reduktase-Mangel, isolierter RFVT3-assoziierte Riboflavin-Transporter-Defizienz Im Kindesalter beginnende autosomal-rezessive Myopathie mit externer Ophtalmoplegie Myopathie, kongenitale, Typ Paradas Desmin-abhängige Myopathie mit Mallory Körperchen-ähnlichen Einschlüssen Seltene hereditäre Stoffwechelkrankheit nit peripherer Neuropathie Kongenitale Myopathie mit Myasthenie-ähnlichem Beginn Isaacs-Syndrom Amyotrophe Lateralsklerose Typ 4 Progressive externe Ophthalmoplegie-Myopathie-Kachexie-Syndrom Spinale Atrophie-Ophthalmoplegie-Pyramidenbahn-Symptomatik-Syndrom Einschlusskörperchenmyopathie mit Paget-Syndrom und frontotemporaler Demenz Mitochondriales DNA-Deletionssyndrom, DNA2-assoziiertes Neuropathie, autonome hereditäre sensorische, Typ 7 Myopathie, zentronukleäre, autosomal-dominante Immunvermittelte nekrotisierende Myopathie Neuropathie, autonome hereditäre sensorische, Typ 5 Spinozerebelläre Ataxie mit axonaler Neuropathie Typ 2 Distale Nebulin-Myopathie Neuropathie, distale hereditäre motorische, Typ 1 Muskeldystrophie, kongenitale, Typ 1A Emery-Dreifuss muscular dystrophy Distal hereditary motor neuropathy type 2 Congenital muscular dystrophy with cerebellar involvement Steinert myotonic dystrophy Congenital muscular dystrophy due to LMNA mutation Hereditary inclusion body myopathy type 4 Congenital muscular dystrophy with intellectual disability Ataxia-oculomotor apraxia type 4 Congenital muscular dystrophy without intellectual disability Distal hereditary motor neuropathy, Jerash type Hereditary myopathy with early respiratory failure Neonatal dermatomyositis Mitochondrial neurogastrointestinal encephalomyopathy Hereditary sensory and autonomic neuropathy type 1B Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation Juvenile primary lateral sclerosis Hereditary sensory and autonomic neuropathy with deafness and global delay Mutilating hereditary sensory neuropathy with spastic paraplegia Congenital muscular dystrophy with hyperlaxity X-linked hereditary sensory and autonomic neuropathy with deafness Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Adult-onset myasthenia gravis Distal hereditary motor neuropathy type 7 Congenital myopathy with reduced type 2 muscle fibers Autosomal dominant mitochondrial myopathy with exercise intolerance Peripheral motor neuropathy-dysautonomia syndrome Spheroid body myopathy Primary lateral sclerosis Cap myopathy Cylindrical spirals myopathy Proximal myopathy with extrapyramidal signs Myopathy with hexagonally cross-linked tubular arrays X-linked myopathy with excessive autophagy Intellectual disability-developmental delay-contractures syndrome Congenital insensitivity to pain with severe intellectual disability Pure mitochondrial myopathy Lethal infantile mitochondrial myopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial DNA depletion syndrome, myopathic form Inflammatory myopathy with abundant macrophages Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Spinocerebellar ataxia with axonal neuropathy type 1 Congenital abducens nerve palsy Autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant adult-onset proximal spinal muscular atrophy Isolated complex III deficiency Muscle filaminopathy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Myosin storage myopathy Hereditary sensory and autonomic neuropathy type 2 Riboflavin transporter deficiency Hereditary continuous muscle fiber activity Hereditary sensory and autonomic neuropathy type 8 Fingerprint body myopathy Reducing body myopathy Rippling muscle disease Mitchell Syndrome Zebra body myopathy Rigid spine syndrome Benign Samaritan congenital myopathy Moderate multiminicore disease with hand involvement Classical dermatomyositis Congenital fiber-type disproportion myopathy Intermediate collagen VI-related muscular dystrophy Fatal infantile hypertonic myofibrillar myopathy Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Adermatopathic dermatomyositis Congenital-onset Steinert myotonic dystrophy Classic multiminicore myopathy Cardiomyopathy-hypotonia-lactic acidosis syndrome