SE-ATLAS

Neuropathie motrice distale héréditaire autosomique récessive Maladie inflammatoire du cerveau Myopathie létale congénitale type Compton-North Dystrophie musculaire congénitale liée à la sous-unité alpha 2 de la laminine Atrophie hémifaciale progressive Myopathie à empreintes digitales Canalopathie musculaire Syndrome d'Isaacs Neuropathie motrice distale héréditaire type 1 Myopathie à corps sphéroïdes Dystrophie musculaire d'Emery-Dreifuss Amyotrophie spinale bénigne congénitale autosomique dominante Myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains Dystrophie musculaire de Duchenne et Becker Syndrome d'atrophie spinale-ophtalmoplégie-syndrome pyramidal Rippling muscle disease Dystrophie musculaire des ceintures Maladie de Niemann-Pick type C, forme neurologique de l'adulte Encéphalomyélite aiguë disséminée Myopathie à corps zébrés Myopathie à corps réducteurs Amyotrophie spinale proximale type 1 Sclérose latérale amyotrophique juvénile Myopathie amérindienne Syndrome d'agénesie du corps calleux-neuropathie Maladie du muscle squelettique Dystrophie facio-scapulo-humérale Syndrome de la colonne raide Syndrome de Morvan Dystrophie musculaire oculo-pharyngée Myxofibrosarcome Neuropathie motrice distale héréditaire type 2 Dystrophie musculaire Paralysie périodique hypokaliémique Myopathie congénitale Myofibromatose infantile Paralysie supranucléaire progressive Complexe Parkinson-démence de Guam Polymyosite juvénile Paramyotonie d'Eulenburg Maladie génétique du muscle squelettique Myopathie distale du muscle tibial antérieur Paraplégie spastique héréditaire Syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte Filaminopathie musculaire Neuropathie motrice distale héréditaire type 5 Aphasie primaire progressive logopénique Myopathie distale précoce associée à KLHL9 Maladie acquise du muscle squelettique Myopathie inflammatoire idiopathique Dystrophie musculaire congénitale d'Ullrich Démence fronto-temporale Dystrophie musculaire progressive Myopathie d'origine métabolique Anoctaminopathie distale Dystrophie musculaire congénitale par déficit en intégrine alpha-7 Maladie de la jonction neuromusculaire Myopathie distale avec atteinte respiratoire précoce Dystrophie myotonique Dystrophie musculaire congénitale avec hyperlaxité Myopathie distale autosomique récessive Activité continue familiale de la fibre musculaire Myopathie distale précoce associée à la nébuline Camptodactylie de Tel Hashomer Myopathie de Brody Maladie génétique de la jonction neuromusculaire Myopathie distale autosomique dominante Maladie acquise de la jonction neuromusculaire Syndrome myasthénique de Lambert-Eaton Amyotrophie spinale distale type 3 Neuropathie motrice distale héréditaire type Jerash Syndrome de paralysie supranucléaire progressive classique Myopathies non dystrophiques Myotilinopathie distale Myopathie à inclusion Atrophie musculaire spinale distale liée à l'X type 3 Alpha-cristallinopathie Maladie de Vogt-Koyanagi-Harada Fasciite à éosinophiles Myopathie distale tardive type Markesbery-Griggs Maladie du motoneurone Syndromes myasthéniques congénitaux synaptiques Dystrophie musculaire congénitale due à une mutation de LMNA Maladie acquise du motoneurone Syndrome de neuropathie périphérique-myopathie-raucité de la voix-surdité Myopathie distale type Miyoshi Maladie génétique du motoneurone Myopathie à spirales cylindriques Myopathie inflammatoire avec abondance de macrophages Myotonie fluctuante Paralysie périodique génétique Myotonie sensible à l'acétazolamide Syndrome de paralysie supranucléaire progressive-parkinsonisme Myopathie avec configuration hexagonale des tubules Amyotrophie spinale avec détresse respiratoire type 1 Syndrome de King-Denborough Amyotrophie spinale proximale autosomique dominante Myasthénie auto-immune Syndrome de paralysie supranucléaire progressive-akinésie pure avec freezing de la marche Myasthénie auto-immune de l'adulte Syndrome d'Andersen-Tawil Myofasciite à macrophages Myopathie myofibrillaire Syndrome de paralysie supranucléaire progressive atypique 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 Congenital myotonia Arthrogryposis due to muscular dystrophy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Neurogenic scapuloperoneal syndrome, Kaeser type Congenital myopathy, Paradas type Hyperkalemic periodic paralysis Muscular dystrophy, Selcen type Autosomal dominant distal hereditary motor neuropathy Frontotemporal degeneration with dementia Finnish upper limb-onset distal myopathy Immune-mediated necrotizing myopathy Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Thyrotoxic periodic paralysis Adult-onset distal myopathy due to VCP mutation Rare dystonia Rhabdomyosarcoma Steinert myotonic dystrophy Schwartz-Jampel syndrome Amyotrophic lateral sclerosis Idiopathic camptocormia Non-dystrophic myopathy with collagen 6 anomaly Distal hereditary motor neuropathy type 7 Transient neonatal myasthenia gravis Autosomal recessive myogenic arthrogryposis multiplex congenita Cap myopathy Bulbospinal muscular atrophy Bulbospinal muscular atrophy of childhood Intellectual disability-developmental delay-contractures syndrome IgG4-related pachymeningitis Myotonia permanens Idiopathic eosinophilic myositis Congenital myopathy with cores Autosomal dominant childhood-onset proximal spinal muscular atrophy DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy ATTRV30M amyloidosis Riboflavin transporter deficiency Congenital muscular dystrophy Pontocerebellar hypoplasia type 2 Frontotemporal dementia, right temporal atrophy variant Kennedy disease Encephalitis Muscular glycogenosis Poliomyelitis Embryonal rhabdomyosarcoma Proximal spinal muscular atrophy type 3