SE-ATLAS

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Late-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 Hereditary motor and sensory neuropathy type 6 Acute pure sensory neuropathy Acute pandysautonomia Acute sensory ataxic neuropathy Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Foodborne botulism Distal arthrogryposis type 1 Juvenile idiopathic inflammatory myopathy Myoclonus-dystonia syndrome Spinal muscular atrophy with respiratory distress type 2 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 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Spinal muscular atrophy with respiratory distress type 1 Autosomal dominant Charcot-Marie-Tooth disease type 2K Cyprus facial-neuromusculoskeletal syndrome Periodic paralysis Very long chain acyl-CoA dehydrogenase deficiency X-linked scapuloperoneal muscular dystrophy Autosomal dominant distal hereditary motor neuropathy Idiopathic inflammatory myopathy Juvenile overlap myositis 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 Skeletal muscle disease ISPD-related limb-girdle muscular dystrophy R20 Neuromuscular junction disease 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 Distal myopathy with anterior tibial onset 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 Autosomal dominant centronuclear myopathy 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 Myxofibrosarcoma Congenital muscular dystrophy without intellectual disability Bickerstaff brainstem encephalitis Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Steinert myotonic dystrophy 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 Mitochondrial neurogastrointestinal encephalomyopathy TOR1AIP1-related limb-girdle muscular dystrophy Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Congenital muscular dystrophy with hyperlaxity Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation Juvenile polymyositis Glycogen storage disease due to muscle glycogen phosphorylase deficiency 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 Proximal myopathy with extrapyramidal signs 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 King-Denborough 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 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 Symptomatic form of X-linked centronuclear myopathy in female carriers 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 Glycogen storage disease due to muscle beta-enolase deficiency 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 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 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 Amish nemaline myopathy Bethlem muscular dystrophy Presynaptic congenital myasthenic syndromes Myosclerosis 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 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 Calpain-3-related limb-girdle muscular dystrophy D4 Anoctamin-5-related limb-girdle muscular dystrophy R12 Congenital muscular dystrophy with integrin alpha-7 deficiency Distal myopathy with early respiratory muscle involvement FKRP-related limb-girdle muscular dystrophy R9 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 Autosomal recessive lower motor neuron disease with childhood onset Laing early-onset distal myopathy Adult polyglucosan body disease 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 Focal myositis POMT1-related limb-girdle muscular dystrophy R11 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Myopathy with hexagonally cross-linked tubular arrays Progressive muscular dystrophy Muscular dystrophy-white matter spongiosis syndrome TRIM32-related limb-girdle muscular dystrophy R8 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Walker-Warburg syndrome Immune-mediated acquired neuromuscular junction disease Mills 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 Autosomal dominant Charcot-Marie-Tooth disease type 2W Spinocerebellar ataxia with epilepsy Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 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 Fatal infantile hypertonic myofibrillar myopathy Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Proximal spinal muscular atrophy type 3 Fungal myositis Charcot-Marie-Tooth disease type 2P Infantile myofibromatosis Juvenile primary lateral sclerosis Charcot-Marie-Tooth disease type 1E Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Autosomal recessive distal myopathy Congenital muscular dystrophy Benign Samaritan congenital myopathy Congenital fiber-type disproportion myopathy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Desmin-related myopathy with Mallory body-like inclusions Motor neuron disease Tel Hashomer camptodactyly syndrome Epidermolysis bullosa simplex with muscular dystrophy Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy Limb-girdle muscular dystrophy Distal hereditary motor neuropathy type 2 Congenital muscular dystrophy due to LMNA mutation Distal hereditary motor neuropathy, Jerash type Hereditary myopathy with early respiratory failure X-linked distal spinal muscular atrophy type 3 Idiopathic camptocormia Wound botulism TNP03-related limb-girdle muscular dystrophy D2 HNRNPDL-related limb-girdle muscular dystrophy D3 Adult-onset myasthenia gravis Myotilinopathy Juvenile myasthenia gravis Carey-Fineman-Ziter syndrome Pyruvate dehydrogenase E3 deficiency Primary triglyceride deposit cardiomyovasculopathy Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Corpus callosum agenesis-neuronopathy syndrome Autosomal dominant Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy type 1B Autosomal dominant Charcot-Marie-Tooth disease type 2O Muscle-eye-brain disease Myasthenia gravis Becker muscular dystrophy Congenital myasthenic syndrome Macrophagic myofasciitis Oculopharyngodistal myopathy Vocal cord and pharyngeal distal myopathy GNE myopathy Distal myopathy, Welander type 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 Mitochondriale Myopathie Charcot-Marie-Tooth-Krankheit Typ 1F POMT2-assoziierte Gliedergürtelmuskeldystrophie R14 POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15 Muskuläre Daueraktivität, hereditäre Guillain-Barré-Syndrom, Variante Periodische Paralyse, genetisch bedingte Lateralsklerose, primäre 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 Acyl-CoA-Dehydrogenase-Mangel, multipler Muskeldystrophie Einschlusskörperchenmyopathie mit Paget-Syndrom und frontotemporaler Demenz Mitochondriales DNA-Deletionssyndrom, DNA2-assoziiertes Myopathie, zentronukleäre, autosomal-rezessive Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2N Carnitin-Palmitoyl-Transferase II-Mangel, neonatale Form Myotone Dystrophie Steinert, juvenile Form Myositis, bakterielle Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1B Adenylosuccinat-Synthase ähnliche 1-abhängige distale Myopathie Nemalin-Myopathie, kongenitale schwere Paralyse, hyperkaliämische periodische Mitochondriales DNA-Depletionssyndrom, myopathische Form Inflammatorische Myopathie mit überzähligen Makrophagen Guillain-Barré-Syndrom, pharyngeal-zervikal-brachiale Variante 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-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 Myopathie, distale, Typ Tateyama 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 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 Distale Nebulin-Myopathie Rhabdomyosarkom Glykogenose durch LAMP-2-Mangel Erworbene Krankheit der Skelettmuskeln Einschlusskörper-Myopathie Poliomyelitis Myogene Arthrogryposis multiplex congenita, autosomal-rezessive Ataxie-Neuropathie-Spektrum Sphäroidkörper-Myopathie 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 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2M Carnitin-Palmitoyl-Transferase II-Mangel Motoneuronkrankheit, erworbene Periodische Paralyse mit transienten Kompartment-ähnlichem Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2I Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A2 Polymyositis Distale Myopathie durch VCP-Genmutation mit Beginn im Erwachsenenalter Charcot-Marie-Tooth-Krankheit Typ 1B Charcot-Marie-Tooth-Krankheit Typ 1D Rippling-Muskel-Krankheit mit Myasthenia gravis KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit Myositis-Overlap-Syndrom Refsum-Krankheit Schwartz-Jampel-Syndrom Glykogenose durch Phosphoglycerat-Mutase-Mangel Kongenitale Myopathie mit reduzierten Typ 2-Muskelfasern Trichinellose