SE-ATLAS

Dystrophie myotonique de Steinert à début tardif Variant pharyngo-cervico-brachial du syndrome de Guillain-Barré Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de KIF5A Syndrome de Freeman-Sheldon Neuropathie sensitivo-motrice héréditaire type 6 Dystrophie myotonique de Steinert à début juvénile Dystrophie myotonique de Steinert de l'adulte Dystrophie musculaire des ceintures autosomique récessive type 2R Syndromes myasthéniques congénitaux par défaut de glycosylation Déficit en adénosine monophosphate désaminase Atrophie musculaire progressive Neuropathie motrice distale héréditaire liée à l'X Botulisme alimentaire Variant paraparétique du syndrome de Guillain-Barré Neuropathie sensorielle pure aiguë Pandysautonomie aiguë Neuropathie ataxique sensorielle aiguë Syndrome de cyphose-atrophie de la langue-myopathie myofibrillaire Syndrome de Richieri-Costa-da Silva Dystonie myoclonique héréditaire Amyotrophie spinale infantile liée à l'X Arthrogrypose distale type 1 Myotonie congénitale Glycogénose avec cardiomyopathie sévère par déficit en glycogénine Myosite virale Amyotrophie spinale scapulopéronière Myosite parasitaire Syndrome scapulo-péronier neurogénique type Kaeser Dystrophie musculaire des ceintures autosomique dominante type 1H Myopathie inflammatoire idiopathique juvénile Amyotrophie spinale avec détresse respiratoire type 2 Syndrome de Guillain-Barré Dystrophie musculaire des ceintures liée à l'alpha-sarcoglycane R3 Dystrophie musculaire congénitale d'Ullrich Amyotrophie spinale proximale Syndrome des antisynthétases Maladie de Charcot-Marie-Tooth autosomique dominante type 2 associée à MME Dystrophie musculaire congénitale mégaconiale Fasciite à éosinophiles Myopathie proximale avec déplétion mitochondriale focale Dystrophie musculaire des ceintures associée à GMPPB R19 Myopathie de Brody Lipidose musculaire Myopathie héréditaire avec acidose lactique par déficit en ISCU Glycogénose musculaire Syndrome de Barth Neuropathie motrice distale héréditaire de l'adulte jeune Syndrome d'encéphalopathie progressive à début précoce-ataxie spastique-amyotrophie spinale distale Dystrophie musculaire des ceintures liée au bêta-sarcoglycane R4 Syndrome myotonique Syndrome de Sheldon-Hall Dystrophie musculaire scapulo-péronière tardive à corps hyalins Amyotrophie spinale avec détresse respiratoire type 1 Paralysie périodique Déficit isolé en succinate-CoQ réductase Myopathie infectieuse, fongique ou parasitaire Myosite bactérienne Déficit en carnitine palmitoyltransférase II Maladie de Charcot-Marie-Tooth autosomique dominante type 2K Syndrome neuro-musculo-squelettique type chypriote Déficit systémique primaire en carnitine Myosite de chevauchement juvénile Amyotrophie spinale associée à une malformation du système nerveux central Déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte Déficit en acyl-CoA déshydrogénase des acides gras à chaîne très longue Dystrophie musculaire scapulo-péronière liée à l'X Neuropathie motrice distale héréditaire autosomique dominante Myopathie inflammatoire idiopathique Dystrophie musculaire des ceintures associée à TRAPPC11 R18 Lipidose avec surcharge en triglycérides Déficit multiple en acyl-CoA déshydrogénases Dystrophie musculaire Maladie du muscle squelettique 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 Carnitine palmitoyl transferase II deficiency, myopathic form Congenital muscular dystrophy Benign Samaritan congenital myopathy Congenital fiber-type disproportion myopathy Childhood-onset Steinert myotonic dystrophy Mitochondrial myopathy Muscular tumor Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Desmin-related myopathy with Mallory body-like inclusions Motor neuron disease Tel Hashomer camptodactyly syndrome Epidermolysis bullosa simplex with muscular dystrophy Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy Limb-girdle muscular dystrophy Distal hereditary motor neuropathy type 2 Congenital muscular dystrophy due to LMNA mutation Distal hereditary motor neuropathy, Jerash type Hereditary myopathy with early respiratory failure X-linked distal spinal muscular atrophy type 3 Idiopathic camptocormia Wound botulism TNP03-related limb-girdle muscular dystrophy D2 HNRNPDL-related limb-girdle muscular dystrophy D3 Adult-onset myasthenia gravis Myotilinopathy Juvenile myasthenia gravis Carey-Fineman-Ziter syndrome Pyruvate dehydrogenase E3 deficiency Primary triglyceride deposit cardiomyovasculopathy Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Corpus callosum agenesis-neuronopathy syndrome Autosomal dominant Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy type 1B Autosomal dominant Charcot-Marie-Tooth disease type 2O Muscle-eye-brain disease Myasthenia gravis Becker muscular dystrophy Congenital myasthenic syndrome Macrophagic myofasciitis Oculopharyngodistal myopathy Vocal cord and pharyngeal distal myopathy Neutral lipid storage disease with ichthyosis GNE myopathy Distal myopathy, Welander type Desminopathy Neutral lipid storage myopathy Distal myotilinopathy Proximal myotonic myopathy Nemaline myopathy Alpha-crystallinopathy Autosomal dominant Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2G Potassium-aggravated myotonia Acute inflammatory demyelinating polyradiculoneuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2J Thomsen and Becker disease Acute motor axonal neuropathy Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Autosomal recessive limb-girdle muscular dystrophy POMGNT2-related limb-girdle muscular dystrophy R24 Madras motor neuron disease X-linked myotubular myopathy-abnormal genitalia syndrome Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial DNA-related progressive external ophthalmoplegia Cramp-fasciculation syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Andersen-Tawil syndrome Polyglucosan body myopathy type 2 Congenital myopathy with internal nuclei and atypical cores Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Telethonin-related limb-girdle muscular dystrophy R7 Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1F POMT2-related limb-girdle muscular dystrophy R14 POMGNT1-related limb-girdle muscular dystrophy R15 Rippling muscle disease with myasthenia gravis Genetic periodic paralysis KLHL9-related early-onset distal myopathy Overlap myositis Cylindrical spirals myopathy Hereditary continuous muscle fiber activity Variant of Guillain-Barré syndrome