SE-ATLAS

Late-onset Steinert myotonic dystrophy Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Freeman-Sheldon syndrome Hereditary motor and sensory neuropathy type 6 Juvenile-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2R Congenital myasthenic syndromes with glycosylation defect Adenosine monophosphate deaminase deficiency Progressive muscular atrophy X-linked distal hereditary motor neuropathy Childhood-onset Steinert myotonic dystrophy Foodborne botulism Paraparetic variant of Guillain-Barré syndrome Acute pure sensory neuropathy Acute pandysautonomia Acute sensory ataxic neuropathy Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Richieri Costa-da Silva syndrome Myoclonus-dystonia syndrome Infantile-onset X-linked spinal muscular atrophy Distal arthrogryposis type 1 Congenital myotonia Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Viral myositis Scapuloperoneal spinal muscular atrophy Parasitic myositis Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Neurogenic scapuloperoneal syndrome, Kaeser type Autosomal dominant limb-girdle muscular dystrophy type 1H Juvenile idiopathic inflammatory myopathy Spinal muscular atrophy with respiratory distress type 2 Guillain-Barré syndrome Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Proximal spinal muscular atrophy MME-related autosomal dominant Charcot Marie Tooth disease type 2 Eosinophilic fasciitis GMPPB-related limb-girdle muscular dystrophy R19 Muscular lipidosis Muscular glycogenosis Young adult-onset distal hereditary motor neuropathy Mitochondrial myopathy Ullrich congenital muscular dystrophy Antisynthetase syndrome Megaconial congenital muscular dystrophy Proximal myopathy with focal depletion of mitochondria Brody myopathy Hereditary myopathy with lactic acidosis due to ISCU deficiency Barth syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Myotonic syndrome Sheldon-Hall syndrome Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Spinal muscular atrophy with respiratory distress type 1 Periodic paralysis Muscular tumor Isolated succinate-CoQ reductase deficiency Infectious, fungal or parasitic myopathy Bacterial myositis Carnitine palmitoyltransferase II deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Cyprus facial-neuromusculoskeletal syndrome Systemic primary carnitine deficiency Juvenile overlap myositis Desmin-related myopathy with Mallory body-like inclusions Spinal muscular atrophy associated with central nervous system anomaly Short chain acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency X-linked scapuloperoneal muscular dystrophy Autosomal dominant distal hereditary motor neuropathy Idiopathic inflammatory myopathy TRAPPC11-related limb-girdle muscular dystrophy R18 Neutral lipid storage disease Multiple acyl-CoA dehydrogenase deficiency Muscular dystrophy Skeletal muscle disease Congenital myopathy with myasthenic-like onset Isaacs syndrome Muscular channelopathy Progressive external ophthalmoplegia-myopathy-emaciation syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Y Autosomal recessive distal hereditary motor neuropathy Metabolic myopathy Neuromuscular junction disease Genetic neuromuscular junction disease Autosomal dominant congenital benign spinal muscular atrophy Spinal atrophy-ophthalmoplegia-pyramidal syndrome Genetic motor neuron disease Distal myopathy, Tateyama type Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISPD-related limb-girdle muscular dystrophy R20 Acquired neuromuscular junction disease Autosomal dominant Charcot-Marie-Tooth disease type 2DD Motor neuron disease Acquired motor neuron disease Pontocerebellar hypoplasia type 1 DNA2-related mitochondrial DNA deletion syndrome Charcot-Marie-Tooth disease type 1 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Dermatomyositis Distal myopathy with anterior tibial onset Autosomal dominant Charcot-Marie-Tooth disease type 2 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Congenital generalized hypercontractile muscle stiffness syndrome Botulism Distal hereditary motor neuropathy type 1 Tel Hashomer camptodactyly syndrome Autosomal recessive centronuclear myopathy Autosomal dominant centronuclear myopathy Hereditary motor and sensory neuropathy type 5 Congenital lethal myopathy, Compton-North type Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hypercontractile muscle stiffness syndrome Thyrotoxic periodic paralysis Epidermolysis bullosa simplex with muscular dystrophy Limb-girdle muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1A Congenital muscular dystrophy due to dystroglycanopathy Myxofibrosarcoma Laminin subunit alpha 2-related congenital muscular dystrophy Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy Distal hereditary motor neuropathy type 2 Autosomal dominant limb-girdle muscular dystrophy type 1B Congenital muscular dystrophy with cerebellar involvement Calpain-3-related limb-girdle muscular dystrophy R1 Dysferlin-related limb-girdle muscular dystrophy R2 Oculopharyngeal muscular dystrophy Congenital muscular dystrophy, Fukuyama type Distal hereditary motor neuropathy type 5 Distal spinal muscular atrophy type 3 Congenital muscular dystrophy with intellectual disability Facioscapulohumeral dystrophy Steinert myotonic dystrophy Muskeldystrophie, kongenitale, durch Lamin-A/C-Mangel X-chromosomale Myopathie mit posturaler Muskelatrophie Neuropathie, distale hereditäre motorische, Typ Jerash Hereditäre Myopathie mit frühem Atemversagen Bickerstaff-Enzephalitis Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ Kongenitale Muskeldystrophie ohne Intelligenzminderung Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ Spinale Muskelatrophie, distale, X-chromosomale, Typ 3 Kamptokormie, idiopathische Enzephalomyopathie, mitochondriale neurogastrointestinale Extraokuläre Muskelfibrose, kongenitale Muscle-Eye-Brain-Syndrom mit bilateraler multizystischer Leukodystrophie Wundbotulismus TNP03-assoziierte Gliedergürtelmuskeldystrophie D2 HNRNPDL-assoziierte Gliedergürtelmuskeldystrophie D3 Adenylosuccinat-Synthase ähnliche 1-abhängige distale Myopathie Botulismus, intestinaler Botulismus, intestinaler, adulter DPM3-CDG Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom Neuropathie, distale motorische, hereditäre, Typ 7 Rhabdomyosarkom, pleomorphes Glykogenose Typ 2, infantile Form Transiente neonatale Myasthenia gravis Hereditäre Spastische Paralyse, aufsteigende, des frühen Kindesalters Kongenitale Muskeldystrophie mit Gelenkinstabilität Scapulo-peroneale Muskeldystrophie, MYH7-abhängige, spät beginnende Form Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Y Myasthenia gravis mit Beginn im Erwachsenenalter Myotilin, qualitative oder quantitative Defekte Juvenile Myasthenia gravis Carey-Fineman-Ziter-Syndrom Pyruvat-Dehydrogenase E3-Mangel Gamma-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R5 Autosomal-dominante mitochondriale Myopathie mit Belastungsintoleranz Triglycerid-Speicher-Kardiomyovaskulopathie Glykogenose Typ 2 Glykogenose Typ 3 Glykogenose Typ 5 Myopathie mit exzessiver Autophagie, X-chromosomal Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch DGAT2-Genmutation Polymyositis, juvenile Kongenitale Extremitäten- und Gesichtskontrakturen-Hypotonie-Entwicklungsverzögerung-Syndrom Proximale Myopathie mit extrapyramidalen Zeichen Glykogenose Typ 4 Glykogenose Typ 7 Intelligenzminderung-Entwicklungsverzögerung-Kontrakturen-Syndrom Lambert-Eaton-Myasthenie-Syndrom Spinale Muskelatrophie, proximale, Typ 1 Idiopathisches Dropped-Head-Syndrom Myotonia permanens Kongenitale Muskeldystrophie-Atemversagen-Hautanomalien-Gelenkinstabilität-Syndrom Plectin-assoziierte Gliedergürtelmuskeldystrophie R17 Pränatale spinale Muskelatrophie mit kongenitalen Knochenbrüchen Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2U Miyoshi-Myopathie Glykogenose Typ 4, progressive hepatische Form Botulismus, infektiöser Myotonia fluctuans Myotonia congenita, Azetazolamidempfindliche Glykogenose Typ 4, nonprogressive hepatische Form King-Denborough-Syndrom Nemalin-Myopathie, kongenitale schwere Kongenitale muskuläre alpha-Dystroglykanopathie mit Gehirn- und Augenanomalien Rhabdomyosarkom, embryonales POGLUT1-assoziierte Gliedergürtelmuskeldystrophie R21 Ionenkanalkrankheit, neuromuskuläre, genetisch bedingte Nemalin-Myopathie mit Beginn im Erwachsenenalter Maligne Hyperthermie Nemalin-Myopathie, intermediäre Rhabdomyosarkom, alveoläres Nemalin-Myopathie, milde Nemalin-Myopathie, typische Periodische Paralyse mit später einsetzender distaler motorischer Neuropathie Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Natriumkanaldefekt Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Kaliumkanaldefekt Periphere Neuropathie-Myopathie-Heiserkeit-Hörverlust-Syndrom Filaminopathie, muskuläre Faziale Diplegie mit Parästhesie Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Chloridkanaldefekt Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Kalziumkanaldefekt Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Ryanodin-Rezeptordefekt Glykogenose durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form Spinale Muskelatrophie, proximale, Typ 2 Glykogenose durch Glykogen-Branching-Enzym-Mangel, infantile neuromuskuläre Form Klippel-Feil-Anomalie-Myopathie-Gesichtsdysmorphie-Syndrom Kennedy-Krankheit Neuropathie, distale hereditäre motorische Progressive skapulo-humerale peroneale distale Myopathie Periodische Paralyse mit transienten Kompartment-ähnlichem Syndrom Ionenkanalkrankheit, autoimmune neurologische Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2V Pontozerebelläre Hypoplasie Typ 2 Spinale Muskelatrophie, proximale, Typ 4 Kongenitale Muskeldystrophie mit Intelligenzminderung und schwerer Epilepsie Kearns-Sayre-Syndrom Dermatomyositis, juvenile Glykogenose durch Glykogen-Branching-Enzym-Mangel, adulte neuromuskuläre Form Symptomatische Form der X-chromosomalen zentronukleären Myopathie bei weiblichen Anlageträgerinnen Myoglobinurie, autosomal-dominante Morvan-Syndrom Spinale Muskelatrophie-progressive Myoklonusepilepsie-Syndrom Myopathie mit tubulären Aggregaten Emery-Dreifuss Muskeldystrophie, autosomal-dominante Mitochondriale Myopathie - Laktatazidose - Schwerhörigkeit MELAS MERRF Botulismus, inhalativer Emery-Dreifuss Muskeldystrophie, X-chromosomale Isolierter Atmungskettendefekt im Komplex I Vakuoläre Myopathie mit Proteinaggregaten des sarkoplasmatischen Retikulums Glykogenose durch Saure-Maltase-Mangel, spät beginnende Form Muskeldystrophie, kongenitale, Typ 1B Myasthenia gravis Muskeldystrophie Typ Becker Myoglobinurie, rekurrente, genetisch bedingte Glykogenose durch muskulären beta-Enolase-Mangel Spinale Muskelatrophie - Dandy-Walker-Malformation - Katarakte Myopathie - Diabetes mellitus Emery-Dreifuss Muskeldystrophie, autosomal-rezessive Mitochondriale Myopathie und sideroblastische Anämie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, mit Riesen-Axonen Botulismus, iatrogener Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Q Amyotrophe Lateralsklerose, juvenile Laminin-Untereinheit alpha 2-assoziierte Gliedergürtelmuskeldystrophie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2O Muskel-Augen-Gehirn-Krankheit Kongenitales myasthenes Syndrom Makrophagische Myofasziitis Muskeldystrophie Typ Duchenne Myopathie, zentronukleäre, X-chromosomale Multiminicore-Myopathie Myopathie, okulo-pharyngo-distale Myopathie, myofibrilläre Myopathie, zentronukleäre Central-Core-Myopathie Myopathie, distale Minicore-Myopathie mit externer Ophtalmoplegie Myopathie, kongenitale, mit Exzess dünner Filamente Neutrale Lipidspeicherkrankheit mit Ichthyose Desminopathie Myotilinopathie, distale Nemalin-Myopathie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2C Nemalin-Myopathie Typ Amish Distale Myopathie mit Stimmband- und Pharynxschwäche GNE-Myopathie Myopathie, distale, Typ Welander Neutralfett-Speicherkrankheit mit Myopathie Myopathie, myotone proximale Alpha-Cristallinopathie Myasthenische Syndrome, kongenitale postsynaptische Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2B Spät-beginnende distale Myopathie Typ Markesbery-Griggs Synaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2D Inclusion body myositis Acute motor and sensory axonal neuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2F Early-onset myopathy with fatal cardiomyopathy Miller Fisher syndrome Myosclerosis Tibial muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2E Bethlem muscular dystrophy Presynaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2G Potassium-aggravated myotonia Acute inflammatory demyelinating polyradiculoneuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2J Thomsen and Becker disease Acute motor axonal neuropathy Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Polyglucosan body myopathy type 1 O'Sullivan-McLeod syndrome Native American myopathy Autosomal dominant limb-girdle muscular dystrophy X-linked myotubular myopathy-abnormal genitalia syndrome Mitochondrial DNA-related progressive external ophthalmoplegia Cramp-fasciculation syndrome Congenital myopathy, Paradas type Hypokalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Limb-girdle muscular dystrophy due to POMK deficiency Amyotrophic lateral sclerosis type 4 Glycogen storage disease due to muscle phosphorylase kinase deficiency Titin-related limb-girdle muscular dystrophy R10 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Autosomal recessive limb-girdle muscular dystrophy POMGNT2-related limb-girdle muscular dystrophy R24 Madras motor neuron disease Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Calpain-3-related limb-girdle muscular dystrophy D4 Hypotonia-speech impairment-severe cognitive delay syndrome Metabolic myopathy due to lactate transporter defect Hyperkalemic periodic paralysis Muscular dystrophy, Selcen type Andersen-Tawil syndrome Polyglucosan body myopathy type 2 Congenital myopathy with internal nuclei and atypical cores Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Telethonin-related limb-girdle muscular dystrophy R7 Alpha-B crystallin-related late-onset myopathy Autosomal dominant limb-girdle muscular dystrophy type 1E Charcot-Marie-Tooth disease type 1A Fukutin-related limb-girdle muscular dystrophy R13 Charcot-Marie-Tooth disease type 1B Polymyositis Charcot-Marie-Tooth disease type 1D FKRP-related limb-girdle muscular dystrophy R9 DNAJB6-related limb-girdle muscular dystrophy D1 Anoctamin-5-related limb-girdle muscular dystrophy R12 Congenital muscular dystrophy with integrin alpha-7 deficiency Distal myopathy with early respiratory muscle involvement Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1F POMT2-related limb-girdle muscular dystrophy R14 POMGNT1-related limb-girdle muscular dystrophy R15 Mitochondrial trifunctional protein deficiency Rippling muscle disease with myasthenia gravis KLHL9-related early-onset distal myopathy Autosomal recessive lower motor neuron disease with childhood onset Distal anoctaminopathy Adult-onset distal myopathy due to VCP mutation Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Hereditary inclusion body myopathy type 4 Neuromuscular disease Schwartz-Jampel syndrome Immune-mediated necrotizing myopathy Genetic periodic paralysis Overlap myositis Adult polyglucosan body disease Distal nebulin myopathy Laing early-onset distal myopathy Refsum disease Rhabdomyosarcoma Focal myositis Glycogen storage disease due to LAMP-2 deficiency POMT1-related limb-girdle muscular dystrophy R11 Amyotrophic lateral sclerosis Distal myopathy with posterior leg and anterior hand involvement Myotonic dystrophy Genetic skeletal muscle disease Acquired skeletal muscle disease Autosomal dominant distal myopathy Non-dystrophic myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2N Congenital myopathy with reduced type 2 muscle fibers Muscular dystrophy-white matter spongiosis syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Z Poliomyelitis Ataxia neuropathy spectrum Primary lateral sclerosis Cylindrical spirals myopathy Bulbospinal muscular atrophy of adult Myopathy with hexagonally cross-linked tubular arrays Progressive muscular dystrophy Inclusion myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2M Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome TRIM32-related limb-girdle muscular dystrophy R8 Trichinellosis Autosomal recessive myogenic arthrogryposis multiplex congenita Spheroid body myopathy Cap myopathy Bulbospinal muscular atrophy Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Immune-mediated acquired neuromuscular junction disease Walker-Warburg syndrome Mills syndrome Mitochondrial DNA depletion syndrome, myopathic form Inflammatory myopathy with abundant macrophages Postpoliomyelitis syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2W Fetal akinesia-cerebral and retinal hemorrhage syndrome Spinocerebellar ataxia with epilepsy Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Idiopathic eosinophilic myositis BVES-related limb-girdle muscular dystrophy Carnitine palmitoyl transferase II deficiency, severe infantile form Reducing body myopathy Rippling muscle disease Zebra body myopathy Rigid spine syndrome Moderate multiminicore disease with hand involvement Antenatal multiminicore disease with arthrogryposis multiplex congenita Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Recessive mitochondrial ataxia syndrome Congenital myopathy with cores Fingerprint body myopathy Glycogen storage disease due to phosphoglycerate mutase deficiency Lower motor neuron syndrome with late-adult onset Carnitine palmitoyl transferase II deficiency, neonatal form Fatal infantile hypertonic myofibrillar myopathy Congenital-onset Steinert myotonic dystrophy Functional variant of Guillain-Barré syndrome Regional variant of Guillain-Barré syndrome Variant of Guillain-Barré syndrome Classic multiminicore myopathy Intellectual disability-myopathy-short stature-endocrine defect syndrome Myosin storage myopathy Corpus callosum agenesis-neuronopathy syndrome Fungal myositis Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Proximal spinal muscular atrophy type 3 Charcot-Marie-Tooth disease type 2P Infant botulism Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Infantile myofibromatosis Charcot-Marie-Tooth disease type 1E Autosomal dominant spastic paraplegia type 17 Juvenile primary lateral sclerosis Finnish upper limb-onset distal myopathy Autosomal recessive distal myopathy Generalized bulbospinal muscular atrophy Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Hereditary continuous muscle fiber activity Carnitine palmitoyl transferase II deficiency, myopathic form LIMS2-related myopathy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Qazi-Markouizos syndrome Myopathic Ehlers-Danlos syndrome Congenital muscular dystrophy Benign Samaritan congenital myopathy Congenital fiber-type disproportion myopathy