SE-ATLAS

Andersen-Tawil syndrome Congenital myasthenic syndrome Trichinellosis Macrophagic myofasciitis Muscular lipidosis Myofibrillar myopathy Poliomyelitis Centronuclear myopathy Polymyositis Neuromuscular disease Adult-onset myasthenia gravis Distal myopathy Embryonal rhabdomyosarcoma Infantile-onset X-linked spinal muscular atrophy Vocal cord and pharyngeal distal myopathy Alveolar rhabdomyosarcoma Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Transient neonatal myasthenia gravis GNE myopathy Juvenile primary lateral sclerosis Muscular glycogenosis Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Distal myopathy, Welander type Juvenile myasthenia gravis Congenital myopathy, Paradas type Distal hereditary motor neuropathy type 7 X-linked myopathy with postural muscle atrophy Proximal myotonic myopathy Nemaline myopathy Hereditary myopathy with early respiratory failure Tibial muscular dystrophy Myotonic syndrome Arthrogryposis due to muscular dystrophy Bethlem muscular dystrophy X-linked myopathy with excessive autophagy Inclusion body myositis Fetal akinesia-cerebral and retinal hemorrhage syndrome Potassium-aggravated myotonia Bulbospinal muscular atrophy Intellectual disability-myopathy-short stature-endocrine defect syndrome Infantile-onset ascending hereditary spastic paralysis Congenital myotonia Thomsen and Becker disease Autosomal dominant spastic paraplegia type 17 Pontocerebellar hypoplasia type 2 Proximal spinal muscular atrophy Bulbospinal muscular atrophy of adult Muscular dystrophy, Selcen type Immune-mediated necrotizing myopathy Pontocerebellar hypoplasia type 1 Kennedy disease Bulbospinal muscular atrophy of childhood Periodic paralysis Muscular tumor Congenital fibrosis of extraocular muscles Generalized bulbospinal muscular atrophy Laing early-onset distal myopathy Congenital myasthenic syndromes with glycosylation defect Overlap myositis Postpoliomyelitis syndrome Monomelic amyotrophy Infectious, fungal or parasitic myopathy Antisynthetase syndrome Rippling muscle disease with myasthenia gravis Cyprus facial-neuromusculoskeletal syndrome Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 2 Viral myositis Dermatomyositis Proximal spinal muscular atrophy type 4 Autosomal recessive lower motor neuron disease with childhood onset Adult-onset distal myopathy due to VCP mutation Focal myositis Bacterial myositis Juvenile idiopathic inflammatory myopathy Myosclerosis Primary lateral sclerosis Idiopathic camptocormia Fungal myositis Parasitic myositis Early-onset myopathy with fatal cardiomyopathy Juvenile overlap myositis Myosin storage myopathy Autosomal dominant childhood-onset proximal spinal muscular atrophy Rhabdomyosarcoma Young adult-onset distal hereditary motor neuropathy Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Muscular dystrophy-white matter spongiosis syndrome Spinal muscular atrophy associated with central nervous system anomaly Juvenile dermatomyositis Congenital muscular dystrophy due to dystroglycanopathy Autosomal dominant adult-onset proximal spinal muscular atrophy Benign Samaritan congenital myopathy Madras motor neuron disease BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Lower motor neuron syndrome with late-adult onset Congenital fiber-type disproportion myopathy Amyotrophic lateral sclerosis type 4 Metabolic myopathy due to lactate transporter defect DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy Myopathie à corps sphéroïdes Myopathie avec surcharge en desmine et inclusions de corps de Mallory Myopathie létale congénitale type Compton-North Déficit en transporteur de la riboflavine Myopathie tardive associée à l'alpha-B cristalline Dystrophie musculaire congénitale mégaconiale Syndrome de Schwartz-Jampel Myopathie vacuolaire avec agrégation de protéines du réticulum sarcoplasmique Syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie Neuropathie motrice distale héréditaire autosomique dominante Sclérose latérale amyotrophique Dystrophie musculaire congénitale liée à la sous-unité alpha 2 de la laminine Canalopathie musculaire Myopathie à empreintes digitales Neuropathie motrice distale héréditaire autosomique récessive Syndrome d'Isaacs Dystrophie musculaire d'Emery-Dreifuss Myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains Amyotrophie spinale bénigne congénitale autosomique dominante Syndrome d'atrophie spinale-ophtalmoplégie-syndrome pyramidal Rippling muscle disease Dystrophie musculaire de Duchenne et Becker Syndrome d'O'Sullivan-McLeod Dystrophie musculaire des ceintures Myopathie amérindienne Myopathie à corps zébrés Neuropathie motrice distale héréditaire type 1 Myopathie à corps réducteurs Dystrophie musculaire congénitale Paralysie périodique thyrotoxique Amyotrophie spinale proximale type 1 Neuropathie motrice distale héréditaire type 2 Sclérose latérale amyotrophique juvénile Syndrome d'agénesie du corps calleux-neuropathie Syndrome de la colonne raide Maladie du muscle squelettique Dystrophie facio-scapulo-humérale Syndrome de Morvan Myopathie distale précoce associée à KLHL9 Dystrophie musculaire oculo-pharyngée Maladie génétique du muscle squelettique Myopathie distale du muscle tibial antérieur Paralysie périodique hypokaliémique Dystrophie musculaire Myofibromatose infantile Myopathie congénitale Filaminopathie musculaire Myxofibrosarcome Hyperkalemic periodic paralysis Steinert myotonic dystrophy Tubular aggregate myopathy Acquired skeletal muscle disease Juvenile polymyositis Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Paramyotonia congenita of Von Eulenburg Idiopathic inflammatory myopathy Ullrich congenital muscular dystrophy Congenital muscular dystrophy type 1B Finnish upper limb-onset distal myopathy Distal hereditary motor neuropathy type 5 Myotonic dystrophy Metabolic myopathy Distal anoctaminopathy Congenital muscular dystrophy with integrin alpha-7 deficiency Malignant hyperthermia of anesthesia Oculopharyngodistal myopathy Distal myopathy with early respiratory muscle involvement Progressive muscular dystrophy Hereditary myopathy with lactic acidosis due to ISCU deficiency Neuromuscular junction disease Distal spinal muscular atrophy type 3 Autosomal dominant distal myopathy Brody myopathy Hereditary continuous muscle fiber activity Tel Hashomer camptodactyly syndrome Genetic neuromuscular junction disease Congenital myopathy with excess of thin filaments Acquired neuromuscular junction disease Lambert-Eaton myasthenic syndrome Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal recessive distal myopathy Non-dystrophic myopathy with collagen 6 anomaly Congenital muscular dystrophy with hyperlaxity Distal myotilinopathy Alpha-crystallinopathy Distal hereditary motor neuropathy, Jerash type Distal nebulin myopathy Non-dystrophic myopathy Desminopathy Inflammatory myopathy with abundant macrophages Postsynaptic congenital myasthenic syndromes Motor neuron disease Eosinophilic fasciitis Late-onset distal myopathy, Markesbery-Griggs type Synaptic congenital myasthenic syndromes Cap myopathy Acquired motor neuron disease Miyoshi myopathy Inclusion myopathy X-linked distal spinal muscular atrophy type 3 Genetic motor neuron disease Presynaptic congenital myasthenic syndromes Myotonia permanens Myotonia fluctuans Congenital myopathy with cores Congenital muscular dystrophy due to LMNA mutation Acetazolamide-responsive myotonia Cylindrical spirals myopathy Neurogenic scapuloperoneal syndrome, Kaeser type Autosomal dominant proximal spinal muscular atrophy Spinal muscular atrophy with respiratory distress type 1 Hereditary inclusion body myopathy type 4 Myopathy with hexagonally cross-linked tubular arrays Idiopathic eosinophilic myositis King-Denborough syndrome Genetic periodic paralysis Autosomal recessive myogenic arthrogryposis multiplex congenita Myasthenia gravis Intellectual disability-developmental delay-contractures syndrome