SE-ATLAS

Juvenile-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy Myasthenia gravis Congenital myasthenic syndrome Mitochondrial myopathy Muscular dystrophy Hereditary spastic paraplegia Polymyositis Refsum disease Amyotrophic lateral sclerosis Tubular aggregate myopathy 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 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 Friedreich ataxia 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 Brody myopathy Paraneoplastic sensory ganglionopathy Potassium-aggravated myotonia Acute motor and sensory axonal neuropathy Acute inflammatory demyelinating polyradiculoneuropathy Early-onset myopathy with fatal cardiomyopathy Miller Fisher syndrome Congenital trigeminal anesthesia Acute motor axonal neuropathy Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Hereditary myopathy with lactic acidosis due to ISCU deficiency Pure hereditary spastic paraplegia Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Congenital myotonia Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG Multifocal motor neuropathy Hereditary sensory and autonomic neuropathy type 4 Periodic paralysis Giant axonal neuropathy Progressive bulbar paralysis of childhood Isolated succinate-CoQ reductase deficiency Madras motor neuron disease RFVT3-related riboflavin transporter deficiency Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Monomelic amyotrophy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Neurogenic scapuloperoneal syndrome, Kaeser type Cramp-fasciculation syndrome Hereditary motor and sensory neuropathy Congenital myopathy, Paradas type Juvenile idiopathic inflammatory myopathy Desmin-related myopathy with Mallory body-like inclusions Multiple pterygium-malignant hyperthermia syndrome Rare hereditary metabolic disease with peripheral neuropathy TMEM70-related mitochondrial encephalo-cardio-myopathy Paramyotonia congenita of Von Eulenburg Congenital myopathy with myasthenic-like onset Muscular dystrophy, Selcen type Isaacs syndrome Idiopathic inflammatory myopathy Amyotrophic lateral sclerosis type 4 Progressive external ophthalmoplegia-myopathy-emaciation syndrome Congenital myopathy with internal nuclei and atypical cores Spinal atrophy-ophthalmoplegia-pyramidal syndrome Motor neuron disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia X-linked Charcot-Marie-Tooth disease type 1 DNA2-related mitochondrial DNA deletion syndrome Autosomal dominant limb-girdle muscular dystrophy type 1E Charcot-Marie-Tooth disease type 1 Congenital muscular dystrophy with integrin alpha-7 deficiency Charcot-Marie-Tooth disease type 1B FASTKD2-related infantile mitochondrial encephalomyopathy Dermatomyositis Autosomal recessive centronuclear myopathy Hereditary sensory and autonomic neuropathy type 7 Autosomal dominant centronuclear myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2 Mitochondrial trifunctional protein deficiency Immune-mediated necrotizing myopathy Dejerine-Sottas syndrome Congenital lethal myopathy, Compton-North type Hereditary sensory and autonomic neuropathy type 5 Spinocerebellar ataxia with axonal neuropathy type 2 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Neurolymphomatosis Distal nebulin myopathy Neuropathy with hearing impairment Distal hereditary motor neuropathy type 1 Subacute inflammatory demyelinating polyneuropathy Laminin subunit alpha 2-related congenital muscular dystrophy Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy Limb-girdle muscular dystrophy Distal hereditary motor neuropathy type 2 Congenital muscular dystrophy with cerebellar involvement Facioscapulohumeral dystrophy Steinert myotonic dystrophy Distal hereditary motor neuropathy type 5 Infectious disease with peripheral neuropathy Focal myositis Congenital muscular dystrophy due to LMNA mutation Hereditary inclusion body myopathy type 4 Myotonic dystrophy Progressive muscular dystrophy Pure or complex hereditary spastic paraplegia Juvenile myasthenia gravis Transient neonatal myasthenia gravis Glycogen storage disease due to acid maltase deficiency Chronic inflammatory demyelinating polyneuropathy Postpoliomyelitis syndrome Congenital trochlear nerve palsy Combined hyperactive dysfunction syndrome of the cranial nerves Congenital oculomotor nerve palsy Trigeminal neuralgia Non-recovering obstetric brachial plexus lesion Ramsay Hunt syndrome Congenital muscular dystrophy Congenital myopathy Juvenile dermatomyositis Distal hereditary motor neuropathy Variant of Guillain-Barré syndrome 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 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 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 Cap myopathy Cylindrical spirals myopathy Proximal myopathy with extrapyramidal signs Myopathy with hexagonally cross-linked tubular arrays Myopathie mit exzessiver Autophagie, X-chromosomal Intelligenzminderung-Entwicklungsverzögerung-Kontrakturen-Syndrom Kongenitale Schmerzunempfindlichkeit mit schwerer Intelligenzminderung Myopathie, mitochondriale, reine Letale mitochondriale Myopathie des Kindes Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit Methylmalonazidurie Myopathie, mitochondriale, mit reversiblem Cytochrom-c-Oxidase-Mangel Mitochondriales DNA-Depletionssyndrom, myopathische Form Inflammatorische Myopathie mit überzähligen Makrophagen Früh-beginnende Myopathie-Areflexie-Atemnot-Dysphagie-Syndrom Reducing-Body-Myopathie Rippling-Muskel-Krankheit Mitchell-Syndrom Zebra-Körperchen-Myopathie Rigid-Spine-Syndrom Myopathie, benigne, Typ Samariter Moderate Multiminicore-Krankheit mit Beteiligung der Hand Dermatomyositis, klassische Myopathie, kongenitale, mit Fasertyp-Disproportion Intermediäre Kollagen Typ VI-assoziierte Muskeldystrophie Fatale infantile hypertone myofibrilläre Myopathie Infantile axonale motorische und sensorische Neuropathie-Optikusatrophie-Neurodegeneration-Syndrom Dermatomyositis, adermatopathische Myotone Dystrophie Steinert, kongenitale Form Multiminicore-Myopathie, klassische Hypertrophe Kardiomyopathie - Muskelhypotonie - Laktatazidose Myotone Dystrophie Steinert mit spätem Beginn Myoglobinurie, autosomal-dominante Neuropathie, autonome hereditäre sensorische, Typ 6 Myotone Dystrophie Steinert mit Beginn im Kindesalter Neuropathie, hereditäre motorisch-sensorische, Typ 6 Morvan-Syndrom Lewis-Sumner-Syndrom Neuropathie, autonome hereditäre sensorische, Typ 1 Myopathie - Diabetes mellitus Mitochondriale Myopathie - Laktatazidose - Schwerhörigkeit MELAS Mitochondriale Myopathie und sideroblastische Anämie MERRF Kongenitale Schmerzunempfindlichkeit mit Anosmie und neuropathischer Arthropathie Muskeldystrophie, kongenitale, Typ 1B CANOMAD-Syndrom Polyneuropathie, axonale, mit assoziierter IgG/IgM/IgA monoklonaler Gammopathie Neuropathie, distale kongenitale motorische, des jungen Erwachsenen RFVT2-assoziierte Riboflavin-Transporter-Defizienz Hereditäre sensorische Neuropathie-sensorineurale Schwerhörigkeit-Demenz-Syndrom Myotones Syndrom Neuropathie, hereditäre thermosensitive Spastische Paraplegie, komplexe Form Hereditäre Neuropathie mit Neigung zu Drucklähmungen Kleinhirnataxie mit peripherer Neuropathie Enzephalomyopathie, mitochondriale neurogastrointestinale Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom Myasthenia gravis mit Beginn im Erwachsenenalter Lateralsklerose, primäre Ataxie, spinozerebelläre mit axonaler Neuropathie, Typ 1 Abduzensparese, kongenitale Proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante Isolierter mitochondrialer Atmungskettendefekt im Komplex III Filaminopathie, muskuläre Autosomal-dominante distale axonale motorische Neuropathie-myofibrilläre Myopathie-Syndrom Sensorische ataktische Neuropathie-Dysarthrie-Ophthalmoparese-Syndrom Myosin-Speicher-Myopathie Neuropathie, autonome hereditäre sensorische, Typ 2 Riboflavin-Transporter-Defizienz Muskuläre Daueraktivität, hereditäre Kongenitale Schmerzunempfindlichkeit-Hypohidrose-Syndrom Fingerprint-Body-Myopathie