SE-ATLAS

Cartographie des Institutions de prise en charge
pour personnes atteintes de maladies rares


Ci-dessous sont listées les maladies représentées par cette association de patients.
Acetazolamide-responsive myotonia Acquired motor neuron disease Acquired neuromuscular junction disease Adult-onset distal myopathy due to VCP mutation Alpha-B crystallin-related late-onset myopathy Alpha-crystallinopathy Amyotrophic lateral sclerosis type 4 Amyotrophie bulbospinale de l'enfant Amyotrophie spinale distale type 3 Amyotrophie spinale proximale autosomique dominante de l'adulte Amyotrophie spinale proximale autosomique dominante de l'enfance associée à DYNC1H1 Amyotrophie spinale proximale type 1 Amyotrophie spinale proximale type 2 Amyotrophie spinale proximale type 4 Andersen-Tawil syndrome Antisynthetase syndrome Arthrogrypose multiple congénitale myogénique autosomique récessive Arthrogryposis due to muscular dystrophy Autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant distal myopathy Autosomal dominant limb-girdle muscular dystrophy Autosomal dominant proximal spinal muscular atrophy Autosomal dominant spastic paraplegia type 17 Autosomal recessive distal hereditary motor neuropathy Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive lower motor neuron disease with childhood onset BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Bacterial myositis Benign Samaritan congenital myopathy Bethlem muscular dystrophy Brody myopathy Bulbospinal muscular atrophy Bulbospinal muscular atrophy of adult Centronuclear myopathy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Congenital fibrosis of extraocular muscles Congenital lethal myopathy, Compton-North type Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy type 1B Congenital muscular dystrophy with hyperlaxity Congenital myasthenic syndrome Congenital myasthenic syndromes with glycosylation defect Congenital myopathy Congenital myopathy with cores Congenital myopathy with excess of thin filaments Congenital myopathy, Paradas type Congenital myotonia Cyprus facial-neuromusculoskeletal syndrome Dermatomyosite Dermatomyosite juvénile Desmin-related myopathy with Mallory body-like inclusions Desminopathy Distal anoctaminopathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy, Jerash type Distal myopathy Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy, Welander type Distal myotilinopathy Dystrophie musculaire congénitale Dystrophie musculaire congénitale par déficit en intégrine alpha-7 Dystrophie musculaire de Duchenne et Becker Dystrophie musculaire progressive Dystrophie myotonique de Steinert Early-onset myopathy with fatal cardiomyopathy Embryonal rhabdomyosarcoma Emery-Dreifuss muscular dystrophy Eosinophilic fasciitis Facioscapulohumeral dystrophy Finnish upper limb-onset distal myopathy Focal myositis Fungal myositis GNE myopathy Generalized bulbospinal muscular atrophy Genetic motor neuron disease Genetic skeletal muscle disease Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glycogénose par déficit en enzyme branchante Glycogénose par déficit en enzyme débranchante Glycogénose par déficit en phosphoglycérate mutase Glycogénose par déficit en phosphorylase kinase musculaire Hereditary continuous muscle fiber activity Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Idiopathic camptocormia Idiopathic inflammatory myopathy Immune-mediated necrotizing myopathy Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myositis Infantile myofibromatosis Infantile-onset X-linked spinal muscular atrophy Infantile-onset ascending hereditary spastic paralysis Infectious, fungal or parasitic myopathy Intellectual disability-developmental delay-contractures syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Isaacs syndrome Juvenile amyotrophic lateral sclerosis Juvenile idiopathic inflammatory myopathy Juvenile myasthenia gravis Juvenile overlap myositis Juvenile-onset Steinert myotonic dystrophy Kennedy disease Laing early-onset distal myopathy Lambert-Eaton myasthenic syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Late-onset distal myopathy, Markesbery-Griggs type Limb-girdle muscular dystrophy Lower motor neuron syndrome with late-adult onset Macrophagic myofasciitis Madras motor neuron disease Maladie du motoneurone Maladie génétique de la jonction neuromusculaire Malignant hyperthermia of anesthesia Megaconial congenital muscular dystrophy Metabolic myopathy due to lactate transporter defect Miyoshi myopathy Monomelic amyotrophy Morvan syndrome Muscle filaminopathy Muscular channelopathy Muscular dystrophy Muscular dystrophy, Selcen type Muscular glycogenosis Muscular lipidosis Muscular tumor Myasthenia gravis Myasthénie auto-immune de l'adulte Myofibrillar myopathy Myopathie avec autophagie excessive liée à l'X Myopathie avec configuration hexagonale des tubules Myopathie avec surcharge en myosine Myopathie congénitale avec disproportion des types de fibres musculaires Myopathie d'origine métabolique Myopathie distale autosomique récessive Myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains Myopathie distale précoce associée à KLHL9 Myopathie distale précoce associée à la nébuline Myopathie inflammatoire avec abondance de macrophages Myopathie liée à l'X avec atrophie des muscles posturaux Myopathie non dystrophique avec anomalie du collag�ne 6 Myopathie à casquette Myopathie à empreintes digitales Myopathie à inclusion Myopathie à spirales cylindriques Myosclerosis Myosite éosinophile idiopathique Myotonia fluctuans Myotonic dystrophy Myotonic syndrome Myotonie permanente Myxofibrosarcome Native American myopathy Nemaline myopathy Neurogenic scapuloperoneal syndrome, Kaeser type Neuromuscular disease Neuromuscular junction disease Neuropathie motrice distale héréditaire autosomique dominante Non-dystrophic myopathy O'Sullivan-McLeod syndrome Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Overlap myositis Paralysie périodique génétique Paramyotonie d'Eulenburg Parasitic myositis Periodic paralysis Poliomyélite Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 Polymyosite juvénile Polymyositis Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 2 Postsynaptic congenital myasthenic syndromes Potassium-aggravated myotonia Presynaptic congenital myasthenic syndromes Primary lateral sclerosis Proximal myotonic myopathy Proximal spinal muscular atrophy Proximal spinal muscular atrophy type 3 Reducing body myopathy Rhabdomyosarcome Rhabdomyosarcome alvéolaire Riboflavin transporter deficiency Rippling muscle disease Rippling muscle disease with myasthenia gravis Schwartz-Jampel syndrome Sclérose latérale amyotrophique Sclérose latérale primitive juvénile Skeletal muscle disease Spheroid body myopathy Spinal atrophy-ophthalmoplegia-pyramidal syndrome Spinal muscular atrophy associated with central nervous system anomaly Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Synaptic congenital myasthenic syndromes Syndrome d'agénesie du corps calleux-neuropathie Syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes Syndrome de King-Denborough Syndrome de dystrophie musculaire congénitale-cataracte infantile-hypogonadisme Syndrome de dystrophie musculaire-substance blanche cérébrale spongieuse Syndrome de la colonne raide Syndrome de neuropathie périphérique-myopathie-raucité de la voix-surdité Syndrome post-poliomyélite Tel Hashomer camptodactyly syndrome Thomsen and Becker disease Thyrotoxic periodic paralysis Tibial muscular dystrophy Transient neonatal myasthenia gravis Trichinellosis Tubular aggregate myopathy Ullrich congenital muscular dystrophy Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Viral myositis Vocal cord and pharyngeal distal myopathy X-linked distal spinal muscular atrophy type 3 Young adult-onset distal hereditary motor neuropathy Zebra body myopathy