SE-ATLAS

Late-onset Steinert myotonic dystrophy Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Freeman-Sheldon syndrome Hereditary motor and sensory neuropathy type 6 Juvenile-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2R Congenital myasthenic syndromes with glycosylation defect Adenosine monophosphate deaminase deficiency Progressive muscular atrophy X-linked distal hereditary motor neuropathy Foodborne botulism Paraparetic variant of Guillain-Barré syndrome Acute pure sensory neuropathy Acute pandysautonomia Acute sensory ataxic neuropathy Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Richieri Costa-da Silva syndrome Myoclonus-dystonia syndrome Infantile-onset X-linked spinal muscular atrophy Distal arthrogryposis type 1 Congenital myotonia Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Viral myositis Scapuloperoneal spinal muscular atrophy Parasitic myositis Neurogenic scapuloperoneal syndrome, Kaeser type Autosomal dominant limb-girdle muscular dystrophy type 1H Juvenile idiopathic inflammatory myopathy Spinal muscular atrophy with respiratory distress type 2 Guillain-Barré syndrome Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Ullrich congenital muscular dystrophy Proximal spinal muscular atrophy Antisynthetase syndrome MME-related autosomal dominant Charcot Marie Tooth disease type 2 Megaconial congenital muscular dystrophy Eosinophilic fasciitis Proximal myopathy with focal depletion of mitochondria GMPPB-related limb-girdle muscular dystrophy R19 Brody myopathy Muscular lipidosis Hereditary myopathy with lactic acidosis due to ISCU deficiency Muscular glycogenosis Barth syndrome Young adult-onset distal hereditary motor neuropathy Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Myotonic syndrome Sheldon-Hall syndrome Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Spinal muscular atrophy with respiratory distress type 1 Periodic paralysis Isolated succinate-CoQ reductase deficiency Infectious, fungal or parasitic myopathy Bacterial myositis Carnitine palmitoyltransferase II deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2K Cyprus facial-neuromusculoskeletal syndrome Systemic primary carnitine deficiency Juvenile overlap myositis Spinal muscular atrophy associated with central nervous system anomaly Short chain acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency X-linked scapuloperoneal muscular dystrophy Autosomal dominant distal hereditary motor neuropathy Idiopathic inflammatory myopathy TRAPPC11-related limb-girdle muscular dystrophy R18 Neutral lipid storage disease Multiple acyl-CoA dehydrogenase deficiency Muscular dystrophy Skeletal muscle disease Congenital myopathy with myasthenic-like onset Isaacs syndrome Autosomal recessive distal hereditary motor neuropathy Metabolic myopathy Muscular channelopathy Progressive external ophthalmoplegia-myopathy-emaciation syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Y Neuromuscular junction disease Genetic neuromuscular junction disease Acquired neuromuscular junction disease Autosomal dominant congenital benign spinal muscular atrophy Spinal atrophy-ophthalmoplegia-pyramidal syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2DD Genetic motor neuron disease Acquired motor neuron disease Distal myopathy, Tateyama type Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Pontocerebellar hypoplasia type 1 DNA2-related mitochondrial DNA deletion syndrome ISPD-related limb-girdle muscular dystrophy R20 Charcot-Marie-Tooth disease type 1 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Dermatomyositis Distal myopathy with anterior tibial onset Autosomal dominant Charcot-Marie-Tooth disease type 2 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Congenital generalized hypercontractile muscle stiffness syndrome Botulism Distal hereditary motor neuropathy type 1 Autosomal recessive centronuclear myopathy Autosomal dominant centronuclear myopathy Hereditary motor and sensory neuropathy type 5 Congenital lethal myopathy, Compton-North type Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hypercontractile muscle stiffness syndrome Thyrotoxic periodic paralysis Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1A Congenital muscular dystrophy due to dystroglycanopathy Myxofibrosarcoma Laminin subunit alpha 2-related congenital muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy type 1B Congenital muscular dystrophy with cerebellar involvement Calpain-3-related limb-girdle muscular dystrophy R1 Dysferlin-related limb-girdle muscular dystrophy R2 Oculopharyngeal muscular dystrophy Congenital muscular dystrophy, Fukuyama type Distal hereditary motor neuropathy type 5 Distal spinal muscular atrophy type 3 Congenital muscular dystrophy with intellectual disability Facioscapulohumeral dystrophy Steinert myotonic dystrophy X-linked myopathy with postural muscle atrophy Congenital muscular dystrophy without intellectual disability Bickerstaff brainstem encephalitis Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple acyl-CoA dehydrogenase deficiency, mild type Mitochondrial neurogastrointestinal encephalomyopathy Congenital fibrosis of extraocular muscles Adenylosuccinate synthetase-like 1-related distal myopathy Muscle-eye-brain disease with bilateral multicystic leucodystrophy Intestinal botulism Adult intestinal botulism DPM3-CDG Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Distal hereditary motor neuropathy type 7 Pleomorphic rhabdomyosarcoma Glycogen storage disease due to acid maltase deficiency, infantile onset Transient neonatal myasthenia gravis Infantile-onset ascending hereditary spastic paralysis Congenital muscular dystrophy with hyperlaxity MYH7-related late-onset scapuloperoneal muscular dystrophy TOR1AIP1-related limb-girdle muscular dystrophy Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Autosomal dominant mitochondrial myopathy with exercise intolerance Glycogen storage disease due to muscle glycogen phosphorylase deficiency X-linked myopathy with excessive autophagy Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation Juvenile polymyositis Congenital limbs-face contractures-hypotonia-developmental delay syndrome Proximal myopathy with extrapyramidal signs Intellectual disability-developmental delay-contractures syndrome Lambert-Eaton myasthenic syndrome Proximal spinal muscular atrophy type 1 Idiopathic dropped head syndrome Myotonia permanens Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Plectin-related limb-girdle muscular dystrophy R17 Prenatal-onset spinal muscular atrophy with congenital bone fractures Autosomal dominant Charcot-Marie-Tooth disease type 2U Miyoshi myopathy Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Toxin-mediated infectious botulism Myotonia fluctuans Acetazolamide-responsive myotonia Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form King-Denborough syndrome Severe congenital nemaline myopathy Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Intermediate nemaline myopathy Embryonal rhabdomyosarcoma POGLUT1-related limb-girdle muscular dystrophy R21 Alveolar rhabdomyosarcoma Childhood-onset nemaline myopathy Genetic neurological muscular channelopathy Adult-onset nemaline myopathy Typical nemaline myopathy Periodic paralysis with later-onset distal motor neuropathy Neurological muscular channelopathy due to a genetic chloride channel defect Neurological muscular channelopathy due to a genetic sodium channel defect Neurological muscular channelopathy due to a genetic potassium channel defect Autosomal dominant adult-onset proximal spinal muscular atrophy Neurological muscular channelopathy due to a genetic calcium channel defect Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Muscle filaminopathy Neurological muscular channelopathy due to a genetic ryanodine receptor defect Facial diplegia with paresthesias Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Proximal spinal muscular atrophy type 2 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Kennedy disease Distal hereditary motor neuropathy Progressive scapulohumeroperoneal distal myopathy Periodic paralysis with transient compartment-like syndrome Autoimmune neurological channelopathy Autosomal dominant Charcot-Marie-Tooth disease type 2V Pontocerebellar hypoplasia type 2 Proximal spinal muscular atrophy type 4 Congenital muscular dystrophy with intellectual disability and severe epilepsy Kearns-Sayre syndrome Juvenile dermatomyositis Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Symptomatic form of X-linked centronuclear myopathy in female carriers Autosomal dominant myoglobinuria Morvan syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Tubular aggregate myopathy Mitochondrial myopathy-lactic acidosis-deafness syndrome MELAS MERRF Inhalational botulism X-linked Emery-Dreifuss muscular dystrophy Isolated complex I deficiency Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Glycogen storage disease due to acid maltase deficiency, late-onset Genetic recurrent myoglobinuria Glycogen storage disease due to muscle beta-enolase deficiency Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Myopathy and diabetes mellitus Autosomal recessive Emery-Dreifuss muscular dystrophy Mitochondrial myopathy and sideroblastic anemia Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Iatrogenic botulism Autosomal dominant Charcot-Marie-Tooth disease type 2Q Juvenile amyotrophic lateral sclerosis Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Duchenne muscular dystrophy Myofibrillar myopathy Centronuclear myopathy X-linked centronuclear myopathy Central core disease Multiminicore myopathy Distal myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with excess of thin filaments Amish nemaline myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2C Postsynaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2B Late-onset distal myopathy, Markesbery-Griggs type Synaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2D Inclusion body myositis Acute motor and sensory axonal neuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2F Early-onset myopathy with fatal cardiomyopathy Miller Fisher syndrome Myosclerosis Tibial muscular dystrophy Bethlem muscular dystrophy Presynaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Polyglucosan body myopathy type 1 O'Sullivan-McLeod syndrome Native American myopathy Autosomal dominant limb-girdle muscular dystrophy Congenital myopathy, Paradas type Hypokalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Limb-girdle muscular dystrophy due to POMK deficiency Amyotrophic lateral sclerosis type 4 Glycogen storage disease due to muscle phosphorylase kinase deficiency Titin-related limb-girdle muscular dystrophy R10 Calpain-3-related limb-girdle muscular dystrophy D4 Metabolic myopathy due to lactate transporter defect Hyperkalemic periodic paralysis Muscular dystrophy, Selcen type Alpha-B crystallin-related late-onset myopathy Autosomal dominant limb-girdle muscular dystrophy type 1E Charcot-Marie-Tooth disease type 1A Fukutin-related limb-girdle muscular dystrophy R13 Charcot-Marie-Tooth disease type 1B Polymyositis Charcot-Marie-Tooth disease type 1D FKRP-related limb-girdle muscular dystrophy R9 DNAJB6-related limb-girdle muscular dystrophy D1 Anoctamin-5-related limb-girdle muscular dystrophy R12 Congenital muscular dystrophy with integrin alpha-7 deficiency Distal myopathy with early respiratory muscle involvement Mitochondrial trifunctional protein deficiency Autosomal recessive lower motor neuron disease with childhood onset Distal anoctaminopathy Adult-onset distal myopathy due to VCP mutation Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Hereditary inclusion body myopathy type 4 Neuromuscular disease Schwartz-Jampel syndrome Immune-mediated necrotizing myopathy Adult polyglucosan body disease Distal nebulin myopathy Laing early-onset distal myopathy Refsum disease Rhabdomyosarcoma Focal myositis Glycogen storage disease due to LAMP-2 deficiency POMT1-related limb-girdle muscular dystrophy R11 Amyotrophic lateral sclerosis Distal myopathy with posterior leg and anterior hand involvement Genetic skeletal muscle disease Acquired skeletal muscle disease Myotonic dystrophy Autosomal dominant distal myopathy Non-dystrophic myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2N Congenital myopathy with reduced type 2 muscle fibers Progressive muscular dystrophy Inclusion myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2M Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Muscular dystrophy-white matter spongiosis syndrome TRIM32-related limb-girdle muscular dystrophy R8 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Trichinellosis Poliomyelitis Autosomal recessive myogenic arthrogryposis multiplex congenita Ataxia neuropathy spectrum Spheroid body myopathy Primary lateral sclerosis Bulbospinal muscular atrophy of adult Myopathy with hexagonally cross-linked tubular arrays Cap myopathy Bulbospinal muscular atrophy Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Immune-mediated acquired neuromuscular junction disease Walker-Warburg syndrome Mills syndrome Mitochondrial DNA depletion syndrome, myopathic form Inflammatory myopathy with abundant macrophages Postpoliomyelitis syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2W Fetal akinesia-cerebral and retinal hemorrhage syndrome Spinocerebellar ataxia with epilepsy Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Idiopathic eosinophilic myositis BVES-related limb-girdle muscular dystrophy Carnitine palmitoyl transferase II deficiency, severe infantile form Reducing body myopathy Rippling muscle disease Zebra body myopathy Rigid spine syndrome Moderate multiminicore disease with hand involvement Antenatal multiminicore disease with arthrogryposis multiplex congenita Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Recessive mitochondrial ataxia syndrome Congenital myopathy with cores Fingerprint body myopathy Glycogen storage disease due to phosphoglycerate mutase deficiency Lower motor neuron syndrome with late-adult onset Carnitine palmitoyl transferase II deficiency, neonatal form Fatal infantile hypertonic myofibrillar myopathy Congenital-onset Steinert myotonic dystrophy Functional variant of Guillain-Barré syndrome Classic multiminicore myopathy Regional variant of Guillain-Barré syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Fungal myositis Myosin storage myopathy Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Proximal spinal muscular atrophy type 3 Charcot-Marie-Tooth disease type 2P Infant botulism Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Infantile myofibromatosis Charcot-Marie-Tooth disease type 1E Autosomal dominant spastic paraplegia type 17 Juvenile primary lateral sclerosis Finnish upper limb-onset distal myopathy Autosomal recessive distal myopathy Generalized bulbospinal muscular atrophy Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome LIMS2-related myopathy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Qazi-Markouizos syndrome Myopathic Ehlers-Danlos syndrome Déficit en carnitine palmitoyltransférase II, forme myopathique Dystrophie musculaire congénitale Myopathie congénitale bénigne des Samaritains Myopathie congénitale avec disproportion des types de fibres musculaires Dystrophie myotonique de Steinert, forme infantile Myopathie mitochondriale Tumeur musculaire Myopathie autosomique récessive avec ophtalmoplégie externe de l'enfant Myopathie avec surcharge en desmine et inclusions de corps de Mallory Maladie du motoneurone Camptodactylie de Tel Hashomer Epidermolyse bulleuse simple avec dystrophie musculaire Dystrophie musculaire d'Emery-Dreifuss Dystrophie musculaire de Duchenne et Becker Dystrophie musculaire des ceintures Neuropathie motrice distale héréditaire type 2 Dystrophie musculaire congénitale due à une mutation de LMNA Neuropathie motrice distale héréditaire type Jerash Myopathie héréditaire avec atteinte respiratoire précoce Atrophie musculaire spinale distale liée à l'X type 3 Camptocormie idiopathique Botulisme par blessure Dystrophie musculaire des ceintures associée à TNP03 D2 Dystrophie musculaire des ceintures associée à HNRNPDL D3 Myasthénie auto-immune de l'adulte Myotilinopathie Myasthénie auto-immune juvénile Syndrome de Carey-Fineman-Ziter Déficit en pyruvate déshydrogénase E3 Cardiomyovasculopathie primaire à surcharge lipidique Glycogénose par déficit en maltase acide Glycogénose par déficit en enzyme débranchante Glycogénose par déficit en enzyme branchante Glycogénose par déficit en phosphofructokinase musculaire Syndrome d'agénesie du corps calleux-neuropathie Dystrophie musculaire d'Emery-Dreifuss autosomique dominante Dystrophie musculaire congénitale type 1B Maladie de Charcot-Marie-Tooth autosomique dominante type 2O Syndrome muscle-oeil-cerveau Myasthénie auto-immune Dystrophie musculaire de Becker Syndrome myasthénique congénital Myofasciite à macrophages Myopathie oculo-pharyngo-distale Myopathie distale avec faiblesse des cordes vocales Lipidose avec surcharge en triglycérides et ichtyose Myopathie liée à GNE Myopathie distale type Welander Desminopathie Myopathie à surcharge lipidique multisystémique Myotilinopathie distale Myopathie myotonique proximale Myopathie à némaline Alpha-cristallinopathie Maladie de Charcot-Marie-Tooth autosomique dominante type 2E Maladie de Charcot-Marie-Tooth autosomique dominante type 2G Myotonie aggravée par le potassium Polyradiculonévrite démyélinisante inflammatoire aiguë Maladie de Charcot-Marie-Tooth autosomique dominante type 2J Myotonie congénitale de Thomsen et Becker Neuropathie axonale motrice aiguë Syndrome de délétions multiples de l'ADN mitochondrial de l'adulte par déficit en DGUOK Maladie de Charcot-Marie-Tooth autosomique dominante type 2L Maladie de Charcot-Marie-Tooth autosomique dominante type 2A1 Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de TFG Ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale Dystrophie musculaire des ceintures autosomique récessive Dystrophie musculaire des ceintures associée à POMGNT2 R24 Maladie du motoneurone type Madras Syndrome de myopathie centronucléaire liée à l'X-anomalies génitales Syndrome de myopathie mitochondriale-ataxie cérébelleuse-rétinopathie pigmentaire Ophtalmoplégie externe progressive due à une mutation de l'ADN mitochondrial Syndrome crampes-fasciculations Syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère Syndrome d'Andersen-Tawil Myopathie à corps de polyglucosane type 2 Myopathie congénitale avec noyaux centrés et cores atypiques Glycogénose par déficit en phosphoglycérate kinase 1 Forme symptomatique de la dystrophie musculaire de Duchenne et Becker de la femme porteuse Dystrophie musculaire des ceintures liée à la téléthonine R7 Maladie de Charcot-Marie-Tooth type 1C Maladie de Charcot-Marie-Tooth type 1F Dystrophie musculaire des ceintures associée à POMT2 R14 Dystrophie musculaire des ceintures associée à POMGNT1 R15 Rippling muscle disease avec myasthenia gravis Paralysie périodique génétique Myopathie distale précoce associée à KLHL9 Myosite de chevauchement Myopathie à spirales cylindriques Activité continue familiale de la fibre musculaire Variant du syndrome de Guillain-Barré