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 Autosomal recessive distal myopathy Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Congenital muscular dystrophy Benign Samaritan congenital myopathy Congenital fiber-type disproportion myopathy Mitochondrial myopathy 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 Desminopathy Neutral lipid storage myopathy Distal myotilinopathy Proximal myotonic myopathy Nemaline myopathy Alpha-crystallinopathy Autosomal dominant Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2G Potassium-aggravated myotonia Acute inflammatory demyelinating polyradiculoneuropathy 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 2L Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation 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 X-linked myotubular myopathy-abnormal genitalia syndrome Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Cramp-fasciculation syndrome Hypotonia-speech impairment-severe cognitive delay syndrome 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 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 Genetic periodic paralysis KLHL9-related early-onset distal myopathy Overlap myositis Hereditary continuous muscle fiber activity Variant of Guillain-Barré syndrome X-linked myopathy with postural muscle atrophy Multiple acyl-CoA dehydrogenase deficiency, mild type Infant botulism Congenital fibrosis of extraocular muscles Infantile-onset ascending hereditary spastic paralysis Congenital limbs-face contractures-hypotonia-developmental delay syndrome Glycogen storage disease due to glycogen branching enzyme deficiency Intellectual disability-developmental delay-contractures syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2U Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Autoimmune neurological channelopathy Genetic recurrent myoglobinuria Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Juvenile amyotrophic lateral sclerosis Neutral lipid storage disease with ichthyosis Metabolic myopathy due to lactate transporter defect DNAJB6-related limb-girdle muscular dystrophy D1 Finnish upper limb-onset distal myopathy Immune-mediated necrotizing myopathy Distal anoctaminopathy Cylindrical spirals myopathy Bulbospinal muscular atrophy of adult Recessive mitochondrial ataxia syndrome Congenital myopathy with cores Freeman-Sheldon syndrome Childhood-onset Steinert myotonic dystrophy Richieri Costa-da Silva syndrome Ullrich congenital muscular dystrophy Muscular glycogenosis Young adult-onset distal hereditary motor neuropathy Infantile-onset X-linked spinal muscular atrophy Congenital myotonia Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Isolated succinate-CoQ reductase deficiency Infectious, fungal or parasitic myopathy Bacterial myositis Multiple acyl-CoA dehydrogenase deficiency Muscular dystrophy Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 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