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 Laminin subunit alpha 2-related congenital muscular dystrophy Fingerprint body myopathy Emery-Dreifuss muscular dystrophy Isaacs syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome Duchenne and Becker muscular dystrophy Reducing body myopathy Rippling muscle disease Native American myopathy Thyrotoxic periodic paralysis KLHL9-related early-onset distal myopathy Proximal spinal muscular atrophy type 1 Morvan syndrome Muscular dystrophy Oculopharyngeal muscular dystrophy Congenital myopathy Skeletal muscle disease Rigid spine syndrome Infantile myofibromatosis Hyperkalemic periodic paralysis Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Paramyotonia congenita of Von Eulenburg Distal myopathy with anterior tibial onset Ullrich congenital muscular dystrophy Acquired skeletal muscle disease Finnish upper limb-onset distal myopathy Progressive muscular dystrophy Oculopharyngodistal myopathy Distal myopathy with early respiratory muscle involvement Hereditary myopathy with lactic acidosis due to ISCU deficiency Distal spinal muscular atrophy type 3 Brody myopathy Hereditary continuous muscle fiber activity Autosomal dominant distal myopathy 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