SE-ATLAS

Autosomal recessive distal hereditary motor neuropathy Brain inflammatory disease Congenital lethal myopathy, Compton-North type Laminin subunit alpha 2-related congenital muscular dystrophy Progressive hemifacial atrophy Fingerprint body myopathy Muscular channelopathy Isaacs syndrome Distal hereditary motor neuropathy type 1 Spheroid body myopathy Emery-Dreifuss muscular dystrophy Autosomal dominant congenital benign spinal muscular atrophy Distal myopathy with posterior leg and anterior hand involvement Duchenne and Becker muscular dystrophy Spinal atrophy-ophthalmoplegia-pyramidal syndrome Rippling muscle disease Limb-girdle muscular dystrophy Niemann-Pick disease type C, adult neurologic onset Acute disseminated encephalomyelitis Zebra body myopathy Reducing body myopathy Proximal spinal muscular atrophy type 1 Juvenile amyotrophic lateral sclerosis Native American myopathy Corpus callosum agenesis-neuronopathy syndrome Skeletal muscle disease Facioscapulohumeral dystrophy Rigid spine syndrome Morvan syndrome Oculopharyngeal muscular dystrophy Myxofibrosarcoma Distal hereditary motor neuropathy type 2 Muscular dystrophy Hypokalemic periodic paralysis Congenital myopathy Infantile myofibromatosis Progressive supranuclear palsy Parkinson-dementia complex of Guam Juvenile polymyositis Paramyotonia congenita of Von Eulenburg Genetic skeletal muscle disease Distal myopathy with anterior tibial onset Hereditary spastic paraplegia Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Muscle filaminopathy Distal hereditary motor neuropathy type 5 Logopenic progressive aphasia KLHL9-related early-onset distal myopathy Acquired skeletal muscle disease Idiopathic inflammatory myopathy Ullrich congenital muscular dystrophy Frontotemporal dementia Progressive muscular dystrophy Metabolic myopathy Distal anoctaminopathy Congenital muscular dystrophy with integrin alpha-7 deficiency Neuromuscular junction disease Distal myopathy with early respiratory muscle involvement Myotonic dystrophy Congenital muscular dystrophy with hyperlaxity Autosomal recessive distal myopathy Hereditary continuous muscle fiber activity Distal nebulin myopathy Tel Hashomer camptodactyly syndrome Brody myopathy Genetic neuromuscular junction disease Autosomal dominant distal myopathy Acquired neuromuscular junction disease Lambert-Eaton myasthenic syndrome Distal spinal muscular atrophy type 3 Distal hereditary motor neuropathy, Jerash type Classic progressive supranuclear palsy syndrome Non-dystrophic myopathy Distal myotilinopathy Inclusion myopathy X-linked distal spinal muscular atrophy type 3 Alpha-crystallinopathy Vogt-Koyanagi-Harada disease Eosinophilic fasciitis Late-onset distal myopathy, Markesbery-Griggs type Motor neuron disease Synaptic congenital myasthenic syndromes Congenital muscular dystrophy due to LMNA mutation Acquired motor neuron disease Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Miyoshi myopathy Genetic motor neuron disease Cylindrical spirals myopathy Inflammatory myopathy with abundant macrophages Myotonia fluctuans Genetic periodic paralysis Acetazolamide-responsive myotonia Progressive supranuclear palsy-parkinsonism syndrome Myopathy with hexagonally cross-linked tubular arrays Spinal muscular atrophy with respiratory distress type 1 King-Denborough syndrome Autosomal dominant proximal spinal muscular atrophy Myasthenia gravis Progressive supranuclear palsy-pure akinesia with gait freezing syndrome Adult-onset myasthenia gravis Andersen-Tawil syndrome Macrophagic myofasciitis Myofibrillar myopathy Atypical progressive supranuclear palsy syndrome Hereditary inclusion body myopathy type 4 Centronuclear myopathy Neuromuscular disease Cluster headache Muscular lipidosis Progressive supranuclear palsy-corticobasal syndrome Juvenile primary lateral sclerosis Tubular aggregate myopathy Fatal post-viral neurodegenerative disorder Polymyositis Trichinellosis Infantile-onset X-linked spinal muscular atrophy Alveolar rhabdomyosarcoma Inclusion body myopathy with Paget disease of bone and frontotemporal dementia GNE myopathy Guillain-Barré syndrome Distal myopathy, Welander type Juvenile myasthenia gravis Progressive supranuclear palsy-progressive non-fluent aphasia syndrome Proximal myotonic myopathy Nemaline myopathy X-linked myopathy with postural muscle atrophy Tibial muscular dystrophy Bethlem muscular dystrophy X-linked myopathy with excessive autophagy Inclusion body myositis Early-onset autosomal dominant Alzheimer disease Fetal akinesia-cerebral and retinal hemorrhage syndrome Hereditary myopathy with early respiratory failure Infantile-onset ascending hereditary spastic paralysis Myotonic syndrome Sporadic Creutzfeldt-Jakob disease Intellectual disability-myopathy-short stature-endocrine defect syndrome Chronic inflammatory demyelinating polyneuropathy Congenital myasthenic syndromes with glycosylation defect Thomsen and Becker disease Periodic paralysis Proximal spinal muscular atrophy Autosomal dominant spastic paraplegia type 17 Pontocerebellar hypoplasia type 1 Overlap myositis Muscular tumor Bulbospinal muscular atrophy of adult Congenital fibrosis of extraocular muscles CLIPPERS Behavioral variant of frontotemporal dementia Postpoliomyelitis syndrome Monomelic amyotrophy Laing early-onset distal myopathy Rippling muscle disease with myasthenia gravis Generalized bulbospinal muscular atrophy Antisynthetase syndrome CANOMAD syndrome Cyprus facial-neuromusculoskeletal syndrome Autosomal recessive lower motor neuron disease with childhood onset Proximal spinal muscular atrophy type 4 Infectious, fungal or parasitic myopathy Proximal spinal muscular atrophy type 2 Dermatomyositis Bacterial myositis Early-onset myopathy with fatal cardiomyopathy Viral myositis Focal myositis Parasitic myositis Primary lateral sclerosis Opsoclonus-myoclonus syndrome Frontotemporal dementia with motor neuron disease Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG Progressive non-fluent aphasia Juvenile overlap myositis Semantic dementia Friedreich ataxia Primary progressive aphasia Myosin storage myopathy Griscelli syndrome type 1 Fungal myositis Juvenile idiopathic inflammatory myopathy Myosclerosis Posterior cortical atrophy Niemann-Pick disease type C Multiple sclerosis variant Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Schilder disease Muscular dystrophy-white matter spongiosis syndrome Amyotrophic lateral sclerosis type 4 Young adult-onset distal hereditary motor neuropathy Niemann-Pick disease type C, severe perinatal form Juvenile dermatomyositis Metabolic myopathy due to lactate transporter defect Spinal muscular atrophy associated with central nervous system anomaly Benign Samaritan congenital myopathy Congenital muscular dystrophy due to dystroglycanopathy Congenital fiber-type disproportion myopathy Lower motor neuron syndrome with late-adult onset Niemann-Pick disease type C, severe early infantile neurologic onset Madras motor neuron disease Autosomal dominant adult-onset proximal spinal muscular atrophy Marburg acute multiple sclerosis Rare neuroinflammatory or neuroimmunological disease Niemann-Pick disease type C, juvenile neurologic onset Baló concentric sclerosis Desmin-related myopathy with Mallory body-like inclusions Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Megaconial congenital muscular dystrophy Alpha-B crystallin-related late-onset myopathy Niemann-Pick disease type C, late infantile neurologic onset Familial hemophagocytic lymphohistiocytosis Neuromyelitis optica spectrum disorder Amyloidosis Congenital muscular dystrophy type 1B Congenital myasthenic syndrome Oculopharyngodistal myopathy Distal myopathy Vocal cord and pharyngeal distal myopathy Congenital myopathy with excess of thin filaments Desminopathy Postsynaptic congenital myasthenic syndromes Presynaptic congenital myasthenic syndromes Potassium-aggravated myotonia Hereditary myopathy with lactic acidosis due to ISCU deficiency Myotonie, kongenitale Arthrogrypose infolge Muskeldystrophie Im Kindesalter beginnende autosomal-rezessive Myopathie mit externer Ophtalmoplegie Neurogenes scapulo-peroneales Syndrom Typ Kaeser Myopathie, kongenitale, Typ Paradas Paralyse, hyperkaliämische periodische Muskeldystrophie Typ Selcen Neuropathy, motorische, distale, hereditäre, autosomal-dominante Frontotemporale Degeneration mit Demenz Distale Myopathie der obere Extremitäten mit Beginn im Erwachsenenalter, Finnischer Typ Immunvermittelte nekrotisierende Myopathie Hereditäre Einschlusskörperchenmyopathie - Gelenkkontrakturen - Ophthalmoplegie Paralyse, periodische thyreotoxische Distale Myopathie durch VCP-Genmutation mit Beginn im Erwachsenenalter Dystonie Rhabdomyosarkom Myotone Dystrophie Steinert Schwartz-Jampel-Syndrom Amyotrophe Lateralsklerose Kamptokormie, idiopathische Nichtdystrophe Myopathien mit Kollagen-6-Anomalie Neuropathie, distale motorische, hereditäre, Typ 7 Transiente neonatale Myasthenia gravis Myogene Arthrogryposis multiplex congenita, autosomal-rezessive Cap-Myopathie Muskelatrophie, bulbospinale Muskelatrophie, bulbospinale, des Kindes Intelligenzminderung-Entwicklungsverzögerung-Kontrakturen-Syndrom Pachymeningitis, IgG4-assoziierte Myotonia permanens Idiopathische eosinophile Myositis Kongenitale Myopathie mit Kern (Core-Krankheiten) Proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant DYNC1H1-assoziierte autosomal-dominante im Kindesalter beginnende proximale spinale Muskelatrophie ATTRV30M-Amyloidose Riboflavin-Transporter-Defizienz Muskeldystrophie, kongenitale Pontozerebelläre Hypoplasie Typ 2 Frontotemporale Demenz, rechtstemporale Variante Kennedy-Krankheit Enzephalitis Glykogenose, muskuläre Poliomyelitis Rhabdomyosarkom, embryonales Spinale Muskelatrophie, proximale, Typ 3