SE-ATLAS

Late-onset Steinert myotonic dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Hereditary motor and sensory neuropathy type 6 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 Foodborne botulism Acute pure sensory neuropathy Acute pandysautonomia Acute sensory ataxic neuropathy Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Myoclonus-dystonia syndrome Distal arthrogryposis type 1 Juvenile idiopathic inflammatory myopathy Spinal muscular atrophy with respiratory distress type 2 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Proximal spinal muscular atrophy Antisynthetase syndrome MME-related autosomal dominant Charcot Marie Tooth disease type 2 Megaconial congenital muscular dystrophy Eosinophilic fasciitis Proximal myopathy with focal depletion of mitochondria GMPPB-related limb-girdle muscular dystrophy R19 Brody myopathy Muscular lipidosis Hereditary myopathy with lactic acidosis due to ISCU deficiency Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Myotonic syndrome Spinal muscular atrophy with respiratory distress type 1 Periodic paralysis Autosomal dominant Charcot-Marie-Tooth disease type 2K Cyprus facial-neuromusculoskeletal syndrome Juvenile overlap myositis Very long chain acyl-CoA dehydrogenase deficiency X-linked scapuloperoneal muscular dystrophy Autosomal dominant distal hereditary motor neuropathy Idiopathic inflammatory myopathy Skeletal muscle disease Congenital myopathy with myasthenic-like onset Isaacs syndrome Autosomal recessive distal hereditary motor neuropathy Metabolic myopathy Muscular channelopathy Progressive external ophthalmoplegia-myopathy-emaciation syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Y Neuromuscular junction disease ISPD-related limb-girdle muscular dystrophy R20 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 Autosomal dominant centronuclear myopathy Congenital lethal myopathy, Compton-North type Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hypercontractile muscle stiffness syndrome Thyrotoxic periodic paralysis Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1A Congenital muscular dystrophy due to dystroglycanopathy Myxofibrosarcoma 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 Steinert myotonic dystrophy Congenital muscular dystrophy without intellectual disability Bickerstaff brainstem encephalitis Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Mitochondrial neurogastrointestinal encephalomyopathy Adenylosuccinate synthetase-like 1-related distal myopathy Muscle-eye-brain disease with bilateral multicystic leucodystrophy Intestinal botulism Adult intestinal botulism DPM3-CDG Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Distal hereditary motor neuropathy type 7 Pleomorphic rhabdomyosarcoma Glycogen storage disease due to acid maltase deficiency, infantile onset Transient neonatal myasthenia gravis Congenital muscular dystrophy with hyperlaxity TOR1AIP1-related limb-girdle muscular dystrophy Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Glycogen storage disease due to muscle glycogen phosphorylase deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation Juvenile polymyositis Proximal myopathy with extrapyramidal signs Lambert-Eaton myasthenic syndrome Proximal spinal muscular atrophy type 1 Miyoshi myopathy Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Idiopathic dropped head syndrome Toxin-mediated infectious botulism Myotonia permanens Myotonia fluctuans Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Acetazolamide-responsive myotonia Plectin-related limb-girdle muscular dystrophy R17 Prenatal-onset spinal muscular atrophy with congenital bone fractures King-Denborough syndrome Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Intermediate nemaline myopathy Embryonal rhabdomyosarcoma POGLUT1-related limb-girdle muscular dystrophy R21 Alveolar rhabdomyosarcoma Childhood-onset nemaline myopathy Typical nemaline myopathy Genetic neurological muscular channelopathy Adult-onset nemaline myopathy Periodic paralysis with later-onset distal motor neuropathy Neurological muscular channelopathy due to a genetic chloride channel defect Neurological muscular channelopathy due to a genetic sodium channel defect Autosomal dominant adult-onset proximal spinal muscular atrophy Neurological muscular channelopathy due to a genetic calcium channel defect Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Muscle filaminopathy Neurological muscular channelopathy due to a genetic ryanodine receptor defect Facial diplegia with paresthesias Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Proximal spinal muscular atrophy type 2 Periodic paralysis with transient compartment-like syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2V Proximal spinal muscular atrophy type 4 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Congenital muscular dystrophy with intellectual disability and severe epilepsy Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Kearns-Sayre syndrome Kennedy disease Juvenile dermatomyositis Distal hereditary motor neuropathy Progressive scapulohumeroperoneal distal myopathy Symptomatic form of X-linked centronuclear myopathy in female carriers Morvan syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Tubular aggregate myopathy Mitochondrial myopathy-lactic acidosis-deafness syndrome MELAS MERRF Inhalational botulism X-linked Emery-Dreifuss muscular dystrophy Isolated complex I deficiency Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to muscle beta-enolase deficiency Myopathy and diabetes mellitus Autosomal recessive Emery-Dreifuss muscular dystrophy Mitochondrial myopathy and sideroblastic anemia Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Iatrogenic botulism Autosomal dominant Charcot-Marie-Tooth disease type 2Q Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Myofibrillar myopathy Centronuclear myopathy X-linked centronuclear myopathy Central core disease Multiminicore myopathy Distal myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with excess of thin filaments Amish nemaline myopathy Postsynaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2B Late-onset distal myopathy, Markesbery-Griggs type 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 Bethlem muscular dystrophy Presynaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2A2 O'Sullivan-McLeod syndrome Native American myopathy Autosomal dominant limb-girdle muscular dystrophy 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 Calpain-3-related limb-girdle muscular dystrophy D4 Hyperkalemic periodic paralysis Muscular dystrophy, Selcen type 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 Anoctamin-5-related limb-girdle muscular dystrophy R12 Congenital muscular dystrophy with integrin alpha-7 deficiency Distal myopathy with early respiratory muscle involvement Autosomal recessive lower motor neuron disease with childhood onset 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 Adult polyglucosan body disease Laing early-onset distal myopathy Refsum disease Focal myositis POMT1-related limb-girdle muscular dystrophy R11 Amyotrophic lateral sclerosis Distal myopathy with posterior leg and anterior hand involvement Genetic skeletal muscle disease Myotonic dystrophy Autosomal dominant distal myopathy Non-dystrophic myopathy Progressive muscular dystrophy Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Muscular dystrophy-white matter spongiosis syndrome TRIM32-related limb-girdle muscular dystrophy R8 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Myopathy with hexagonally cross-linked tubular arrays Immune-mediated acquired neuromuscular junction disease Walker-Warburg syndrome Mills syndrome Mitochondrial DNA depletion syndrome, myopathic form Inflammatory myopathy with abundant macrophages Autosomal dominant Charcot-Marie-Tooth disease type 2W Spinocerebellar ataxia with epilepsy Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 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 Fatal infantile hypertonic myofibrillar myopathy Congenital-onset Steinert myotonic dystrophy Functional variant of Guillain-Barré syndrome Classic multiminicore myopathy Regional variant of Guillain-Barré syndrome Intellectual disability-myopathy-short stature-endocrine defect 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 Infantile myofibromatosis Charcot-Marie-Tooth disease type 1E Juvenile primary lateral sclerosis Myopathie, distale, autosomal-rezessive Sensorische ataktische Neuropathie-Dysarthrie-Ophthalmoparese-Syndrom Autosomal-dominante distale axonale motorische Neuropathie-myofibrilläre Myopathie-Syndrom Muskeldystrophie, kongenitale Myopathie, benigne, Typ Samariter Myopathie, kongenitale, mit Fasertyp-Disproportion Mitochondriale Myopathie Desmin-abhängige Myopathie mit Mallory Körperchen-ähnlichen Einschlüssen Motoneuronkrankheit Tel-Hashomer-Kamptodaktylie-Syndrom Epidermolysis bullosa simplex mit Muskeldystrophie Emery-Dreifuss Muskeldystrophie Duchenne- und Becker-Muskeldystrophie Gliedergürtelmuskeldystrophie Neuropathie, distale hereditäre motorische, Typ 2 Muskeldystrophie, kongenitale, durch Lamin-A/C-Mangel Neuropathie, distale hereditäre motorische, Typ Jerash Hereditäre Myopathie mit frühem Atemversagen Spinale Muskelatrophie, distale, X-chromosomale, Typ 3 Kamptokormie, idiopathische Wundbotulismus TNP03-assoziierte Gliedergürtelmuskeldystrophie D2 HNRNPDL-assoziierte Gliedergürtelmuskeldystrophie D3 Myasthenia gravis mit Beginn im Erwachsenenalter Myotilin, qualitative oder quantitative Defekte Juvenile Myasthenia gravis Carey-Fineman-Ziter-Syndrom Pyruvat-Dehydrogenase E3-Mangel Triglycerid-Speicher-Kardiomyovaskulopathie Glykogenose Typ 2 Glykogenose Typ 3 Glykogenose Typ 7 Corpus callosum-Agenesie-Neuropathie-Syndrom Emery-Dreifuss Muskeldystrophie, autosomal-dominante Muskeldystrophie, kongenitale, Typ 1B Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2O Muskel-Augen-Gehirn-Krankheit Myasthenia gravis Muskeldystrophie Typ Becker Kongenitales myasthenes Syndrom Makrophagische Myofasziitis Myopathie, okulo-pharyngo-distale Distale Myopathie mit Stimmband- und Pharynxschwäche GNE-Myopathie Myopathie, distale, Typ Welander Desminopathie Neutralfett-Speicherkrankheit mit Myopathie Myotilinopathie, distale Myopathie, myotone proximale Nemalin-Myopathie Alpha-Cristallinopathie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2E Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2G Myotonie, Kalium-sensitive Akute demyelinisierende inflammatorische Polyradikuloneuropathie Myotonia congenita Typ Thomsen und Becker Neuropathie, akute axonale motorische Multiples mitochondriales DNA-Deletionssyndrom durch DGUOK-Mangel des Erwachsenen Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2L Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A1 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch TFG-Genmutation Ophthalmoplegie, chronische externe progressive, mit mitochondrialer Myopathie, adulte Form Gliedergürtelmuskeldystrophie, autosomale-rezessive POMGNT2-assoziierte Gliedergürtelmuskeldystrophie R24 Motoneuron-Krankheit Madras X-chromosomale myotubuläre Myopathie-Genitalanomalien-Syndrom Mitochondriale Myopathie-zerebelläre Ataxie-Pigmentretinopathie-Syndrom Crampus-Faszikulations-Syndrom Hypotonie-Sprachstörung-schwere kognitive Entwicklungsverzögerung-Syndrom Andersen-Tawil-Syndrom Polyglucosan-Körper-Myopatie Typ 2 Kongenitale Myopathie mit internen Nuclei und atypischen Kernen Glykogenose durch Phosphoglycerat-Kinase 1-Mangel Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen Telethonin-assoziierte Gliedergürtelmuskeldystrophie R7 Charcot-Marie-Tooth-Krankheit Typ 1C Charcot-Marie-Tooth-Krankheit Typ 1F POMT2-assoziierte Gliedergürtelmuskeldystrophie R14 POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15 Periodische Paralyse, genetisch bedingte KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit Myositis-Overlap-Syndrom Muskuläre Daueraktivität, hereditäre Guillain-Barré-Syndrom, Variante X-chromosomale Myopathie mit posturaler Muskelatrophie Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ Säuglingsbotulismus Extraokuläre Muskelfibrose, kongenitale Hereditäre Spastische Paralyse, aufsteigende, des frühen Kindesalters Kongenitale Extremitäten- und Gesichtskontrakturen-Hypotonie-Entwicklungsverzögerung-Syndrom Glykogenose Typ 4 Intelligenzminderung-Entwicklungsverzögerung-Kontrakturen-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2U Glykogenose durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form Ionenkanalkrankheit, autoimmune neurologische Myoglobinurie, rekurrente, genetisch bedingte Spinale Muskelatrophie - Dandy-Walker-Malformation - Katarakte Amyotrophe Lateralsklerose, juvenile Neutrale Lipidspeicherkrankheit mit Ichthyose Myopathie, metabolische, durch Laktat-Transporter-Defekt DNAJB6-assoziierte Gliedergürtelmuskeldystrophie D1 Distale Myopathie der obere Extremitäten mit Beginn im Erwachsenenalter, Finnischer Typ Immunvermittelte nekrotisierende Myopathie Anoctaminopathie, distale Myopathie mit zylindrischen Spiralen Muskelatrophie, bulbospinale, des Erwachsenen Ataxie-Syndrom, mitochondriales rezessives Kongenitale Myopathie mit Kern (Core-Krankheiten) Freeman-Sheldon-Syndrom Myotone Dystrophie Steinert mit Beginn im Kindesalter Richieri-Costa-da-Silva-Syndrom Muskeldystrophie, kongenitale, Typ Ullrich Glykogenose, muskuläre Neuropathie, distale kongenitale motorische, des jungen Erwachsenen Spinale Muskelatrophie, infantile, X-chromosomale Myotonie, kongenitale Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel Succinat-Coenzym-Q-Reduktase-Mangel, isolierter Myopathie bei infektiösen und parasitären Krankheiten Myositis, bakterielle Acyl-CoA-Dehydrogenase-Mangel, multipler Muskeldystrophie Einschlusskörperchenmyopathie mit Paget-Syndrom und frontotemporaler Demenz Mitochondriales DNA-Deletionssyndrom, DNA2-assoziiertes Myopathie, zentronukleäre, autosomal-rezessive Glykogenose durch Phosphoglycerat-Mutase-Mangel Carnitin-Palmitoyl-Transferase II-Mangel, neonatale Form Guillain-Barré-Syndrom, pharyngeal-zervikal-brachiale Variante Myotone Dystrophie Steinert, juvenile Form Paraparetische Variante des Guillain-Barré-Syndroms Guillain-Barré-Syndrom Barth-Syndrom Früh-beginnende progressive Enzephalopathie-spastische Ataxie-distale spinale Muskelatrophie-Syndrom Sheldon-Hall-Syndrom Muskeltumor Myositis, virale Muskelatrophie, scapuloperoneale spinale Myositis, parasitäre Im Kindesalter beginnende autosomal-rezessive Myopathie mit externer Ophtalmoplegie Muskelatrophie, scapuloperoneale spinale, mit hyalinen Körperchen, spät beginnende Form Neurogenes scapulo-peroneales Syndrom Typ Kaeser Carnitin-Palmitoyl-Transferase II-Mangel Carnitin-Mangel, primärer systemischer Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1H Neutralfett-Speicherkrankheit Spinale Muskelatrophie mit assoziierten Anomalien des Zentralnervensystems Kurzketten-Acyl-CoA-Dehydrogenase-Mangel TRAPPC11-assoziierte Gliedergürtelmuskeldystrophie R18 Neuromuskuläre Übertragungsstörung, genetisch bedingte Neuromuskuläre Übertragungsstörung, erworbene Kongenitale benigne spinale Muskelatrophie, autosomal-dominante Form Spinale Atrophie-Ophthalmoplegie-Pyramidenbahn-Symptomatik-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2DD Krankheit der Vorderhornzellen, autosomal-dominant oder rezessive Motoneuronkrankheit, erworbene Myopathie, distale, Typ Tateyama Pontozerebelläre Hypoplasie Typ 1 Charcot-Marie-Tooth-Krankheit Typ 1 Delta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R6 Dermatomyositis Neuropathie, hereditäre motorisch-sensorische, Typ 5 Muskeldystrophie, kongenitale, Typ 1A Muskeldystrophie, fazio-skapulo-humerale Scapulo-peroneale Muskeldystrophie, MYH7-abhängige, spät beginnende Form Autosomal-dominante mitochondriale Myopathie mit Belastungsintoleranz Myopathie mit exzessiver Autophagie, X-chromosomal Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel Glykogenose Typ 4, nonprogressive hepatische Form Nemalin-Myopathie, kongenitale schwere Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Kaliumkanaldefekt Myosin-Speicher-Myopathie Glykogenose durch Glykogen-Branching-Enzym-Mangel, adulte neuromuskuläre Form Myoglobinurie, autosomal-dominante Muskeldystrophie Typ Duchenne Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2C Muskeldystrophie, tibiale Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2J Polyglucosan-Körper-Myopathie Typ 1 Spastische Paraplegie, autosomal-dominante, Typ 17 Ophthalmoplegie, chronische externe progressive, maternal-vererbte Defekt des mitochondrialen trifunktionalen Proteins Rippling-Muskel-Krankheit mit Myasthenia gravis Distale Nebulin-Myopathie Rhabdomyosarkom Glykogenose durch LAMP-2-Mangel Erworbene Krankheit der Skelettmuskeln Einschlusskörper-Myopathie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2N Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2M Kongenitale Myopathie mit reduzierten Typ 2-Muskelfasern Trichinellose Poliomyelitis Myogene Arthrogryposis multiplex congenita, autosomal-rezessive Ataxie-Neuropathie-Spektrum Sphäroidkörper-Myopathie Lateralsklerose, primäre Cap-Myopathie Muskelatrophie, bulbospinale Hereditäre fibröse Poikilodermie-Sehnenkontraktur-Myopathie-Lungenfibrose-Syndrom Muskelatrophie, bulbospinale generalisierte Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2W Post-Poliomyelitis-Syndrom Fetale Akinesie-zerebrale und retinale Blutungen-Syndrom Idiopathische eosinophile Myositis Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2X Qazi-Markouizos-Syndrom Ehlers-Danlos-Syndrom, myopathischer Typ Carnitin-Palmitoyl-Transferase II-Mangel, myopathische Form Fingerprint-Body-Myopathie Carnitin-Palmitoyl-Transferase II-Mangel, schwere infantile Form Untere Vorderhornerkrankung mit Beginn im späten Erwachsenenalter