SE-ATLAS

Distale Myopathie durch VCP-Genmutation mit Beginn im Erwachsenenalter Myositis, parasitäre Myopathie, idiopathische inflammatorische, juvenile Form Myositis, bakterielle Kamptokormie, idiopathische Myositis bei Pilzerkrankungen Myopathie mit fataler Kardiomyopathie, früh-beginnende Form Myosin-Speicher-Myopathie Rhabdomyosarkom Neuropathie, distale kongenitale motorische, des jungen Erwachsenen Richieri-Costa-da-Silva-Syndrom Kongenitale Muskeldystrophie durch Dystroglykanopathie Kongenitale Muskeldystrophie-infantile Katarakt-Hyogonadismus-Syndrom Myositis-Overlap-Syndrom, juveniles Proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant Muskeldystrophie - Spongiosis der weissen Gehirnmasse Dermatomyositis, juvenile Alpha-B Crystallin-abhängige spät beginnende Myopathie Spinale Muskelatrophie mit assoziierten Anomalien des Zentralnervensystems Amyotrophe Lateralsklerose Typ 4 Myopathie, metabolische, durch Laktat-Transporter-Defekt BICD2-assoziierte proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante Desmin-abhängige Myopathie mit Mallory Körperchen-ähnlichen Einschlüssen DYNC1H1-assoziierte autosomal-dominante im Kindesalter beginnende proximale spinale Muskelatrophie Vakuoläre Myopathie mit Proteinaggregaten des sarkoplasmatischen Retikulums Myopathie, letale, kongenitale, Typ Compton-North Riboflavin-Transporter-Defizienz Neuropathy, motorische, distale, hereditäre, autosomal-dominante Amyotrophe Lateralsklerose Muskeldystrophie, kongenitale, Typ 1A Fingerprint-Body-Myopathie Emery-Dreifuss Muskeldystrophie Isaacs-Syndrom Spinale Atrophie-Ophthalmoplegie-Pyramidenbahn-Symptomatik-Syndrom Duchenne- und Becker-Muskeldystrophie Reducing-Body-Myopathie Rippling-Muskel-Krankheit Native-American-Myopathie Paralyse, periodische thyreotoxische KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit Spinale Muskelatrophie, proximale, Typ 1 Morvan-Syndrom Muskeldystrophie Muskeldystrophie, okulopharyngeale Myopathie, kongenitale Skelettmuskel-Krankheit Rigid-Spine-Syndrom Myofibromatose, infantile Paralyse, hyperkaliämische periodische Spinale Muskelatrophie - Dandy-Walker-Malformation - Katarakte Paramyotonia congenita Eulenburg Distale Myopathie mit Beginn am vorderen Schienenbein Muskeldystrophie, kongenitale, Typ Ullrich Erworbene Krankheit der Skelettmuskeln Distale Myopathie der obere Extremitäten mit Beginn im Erwachsenenalter, Finnischer Typ Muskeldystrophie, progressive Myopathie, okulo-pharyngo-distale Myopathie, distale, mit früher Beteiligung der Atemmuskulatur Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel Spinale Muskelatrophie, distale, Typ 3 Brody-Myopathie Muskuläre Daueraktivität, hereditäre Myopathie, distale, autosomal-dominante Distal hereditary motor neuropathy, Jerash type Congenital myopathy with excess of thin filaments Distal nebulin myopathy Alpha-crystallinopathy Cap myopathy Motor neuron disease Late-onset distal myopathy, Markesbery-Griggs type Non-dystrophic myopathy with collagen 6 anomaly Distal myotilinopathy Eosinophilic fasciitis Miyoshi myopathy Congenital myopathy with cores Presynaptic congenital myasthenic syndromes Myotonia permanens Acquired motor neuron disease Inclusion myopathy Acetazolamide-responsive myotonia Hereditary inclusion body myopathy type 4 Idiopathic eosinophilic myositis Autosomal recessive myogenic arthrogryposis multiplex congenita Congenital myasthenic syndrome Myofibrillar myopathy Juvenile myasthenia gravis Neuromuscular disease Muscular glycogenosis Adult-onset myasthenia gravis Central core disease Distal myopathy Infantile-onset X-linked spinal muscular atrophy Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Fetal akinesia-cerebral and retinal hemorrhage syndrome Congenital myopathy, Paradas type X-linked myopathy with postural muscle atrophy Proximal myotonic myopathy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Nemaline myopathy Bethlem muscular dystrophy Myotonic syndrome Inclusion body myositis Potassium-aggravated myotonia Infantile-onset ascending hereditary spastic paralysis Bulbospinal muscular atrophy of childhood Bulbospinal muscular atrophy Proximal spinal muscular atrophy Congenital myotonia Kennedy disease Overlap myositis Bulbospinal muscular atrophy of adult Muscular dystrophy, Selcen type Immune-mediated necrotizing myopathy Congenital fibrosis of extraocular muscles Rippling muscle disease with myasthenia gravis Monomelic amyotrophy Infectious, fungal or parasitic myopathy Cyprus facial-neuromusculoskeletal syndrome Proximal spinal muscular atrophy type 4 Muscular lipidosis Distal hereditary motor neuropathy type 1 Myotonia fluctuans Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Andersen-Tawil syndrome Autosomal recessive lower motor neuron disease with childhood onset Myopathy with hexagonally cross-linked tubular arrays Generalized bulbospinal muscular atrophy Congenital muscular dystrophy Congenital myasthenic syndromes with glycosylation defect Megaconial congenital muscular dystrophy Autosomal dominant proximal spinal muscular atrophy Periodic paralysis Viral myositis Idiopathic inflammatory myopathy Metabolic myopathy Neuromuscular junction disease Acquired neuromuscular junction disease Genetic motor neuron disease Tel Hashomer camptodactyly syndrome Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Distal hereditary motor neuropathy type 2 Facioscapulohumeral dystrophy X-linked distal spinal muscular atrophy type 3 Congenital muscular dystrophy with hyperlaxity Distal hereditary motor neuropathy type 7 Transient neonatal myasthenia gravis Intellectual disability-developmental delay-contractures syndrome Lambert-Eaton myasthenic syndrome Embryonal rhabdomyosarcoma Muscle filaminopathy Proximal spinal muscular atrophy type 3 Tubular aggregate myopathy Myasthenia gravis Vocal cord and pharyngeal distal myopathy GNE myopathy Desminopathy Postsynaptic congenital myasthenic syndromes Tibial muscular dystrophy Congenital muscular dystrophy with integrin alpha-7 deficiency Non-dystrophic myopathy Spheroid body myopathy Antisynthetase syndrome Arthrogryposis due to muscular dystrophy Muscular tumor Neurogenic scapuloperoneal syndrome, Kaeser type Autosomal recessive distal hereditary motor neuropathy Muscular channelopathy Genetic neuromuscular junction disease Autosomal dominant congenital benign spinal muscular atrophy Pontocerebellar hypoplasia type 1 Dermatomyositis Myxofibrosarcoma Limb-girdle muscular dystrophy Steinert myotonic dystrophy Distal hereditary motor neuropathy type 5 Congenital muscular dystrophy due to LMNA mutation Hereditary myopathy with early respiratory failure X-linked myopathy with excessive autophagy Juvenile polymyositis King-Denborough syndrome Alveolar rhabdomyosarcoma Corpus callosum agenesis-neuronopathy syndrome Proximal spinal muscular atrophy type 2 Juvenile amyotrophic lateral sclerosis Congenital muscular dystrophy type 1B Macrophagic myofasciitis Centronuclear myopathy Distal myopathy, Welander type Synaptic congenital myasthenic syndromes Spinal muscular atrophy with respiratory distress type 1 Madras motor neuron disease Hypokalemic periodic paralysis Trichinellosis Poliomyelitis Myosclerosis Thomsen and Becker disease O'Sullivan-McLeod syndrome Autosomal dominant spastic paraplegia type 17 Postpoliomyelitis syndrome Inflammatory myopathy with abundant macrophages Polymyositis Laing early-onset distal myopathy Schwartz-Jampel syndrome Distal myopathy with posterior leg and anterior hand involvement Genetic periodic paralysis Distal anoctaminopathy Focal myositis Genetic skeletal muscle disease Myotonic dystrophy Juvenile primary lateral sclerosis Autosomal recessive distal myopathy Zebra body myopathy Benign Samaritan congenital myopathy Primary lateral sclerosis Cylindrical spirals myopathy Lower motor neuron syndrome with late-adult onset Congenital fiber-type disproportion myopathy Intellectual disability-myopathy-short stature-endocrine defect syndrome