SE-ATLAS

Dystrophie myotonique de Steinert à début juvénile Dystrophie myotonique de Steinert de l'adulte Myasthénie auto-immune Syndrome myasthénique congénital Myopathie mitochondriale Dystrophie musculaire Paraplégie spastique héréditaire Polymyosite Maladie de Refsum Sclérose latérale amyotrophique Myopathie avec agrégats tubulaires Syndrome de cyphose-atrophie de la langue-myopathie myofibrillaire Syndromes myasthéniques congénitaux par défaut de glycosylation Connectivite associée à EMILIN-1 Déficit en adénosine monophosphate désaminase Déficit isolé en complexe I Atrophie musculaire progressive Syndrome de Guillain-Barré Sclérose latérale amyotrophique juvénile Myopathie vacuolaire avec agrégation de protéines du réticulum sarcoplasmique Dystrophie musculaire congénitale d'Ullrich Dystrophie musculaire de Becker Dystrophie musculaire congénitale type 1D Dystrophie musculaire de Duchenne Myopathie centronucléaire liée à l'X Myopathie congénitale à "central cores" Myopathie à multi-minicores Myopathie à multi-minicores avec ophtalmoplégie externe Myopathie congénitale avec excès de filaments fins Myopathie liée à GNE Desminopathie Ganglionopathie sensitive non paranéoplasique Myotilinopathie distale Ataxie de Friedreich Syndromes myasthéniques congénitaux post-synaptiques Myosclérose Myopathie distale tardive type Markesbery-Griggs Dystrophie musculaire tibiale Syndromes myasthéniques congénitaux synaptiques Dystrophie musculaire des ceintures associée à GMPPB R19 Dystrophie musculaire de Bethlem Syndromes myasthéniques congénitaux pré-synaptiques Myopathie de Brody Ganglionopathie sensitive paranéoplasique Myotonie aggravée par le potassium Neuropathie sensitivo-motrice axonale aiguë Polyradiculonévrite démyélinisante inflammatoire aiguë Myopathie précoce avec cardiomyopathie létale Syndrome de Miller Fisher Anesthésie congénitale du nerf trijumeau Neuropathie axonale motrice aiguë Syndrome de délétions multiples de l'ADN mitochondrial de l'adulte par déficit en DGUOK Myopathie héréditaire avec acidose lactique par déficit en ISCU Paraplégie spastique héréditaire pure Ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale Myotonie congénitale Polyneuropathie associée à une gammopathie monoclonale IgM ayant une activité anti-MAG Neuropathie motrice multifocale Neuropathie héréditaire sensitive et autonomique type 4 Paralysie périodique Neuropathie à axones géants Paralysie bulbaire progressive de l'enfant Déficit isolé en succinate-CoQ réductase Maladie du motoneurone type Madras Déficit en transporteur de la riboflavine lié à RFVT3 Syndrome de myopathie mitochondriale-ataxie cérébelleuse-rétinopathie pigmentaire Amyotrophie monomélique Myopathie autosomique récessive avec ophtalmoplégie externe de l'enfant Syndrome scapulo-péronier neurogénique type Kaeser Syndrome crampes-fasciculations Neuropathie sensitivo-motrice héréditaire Myopathie congénitale type Paradas Myopathie inflammatoire idiopathique juvénile Myopathie avec surcharge en desmine et inclusions de corps de Mallory Syndrome des ptérygiums multiples-hyperthermie maligne Maladie métabolique héréditaire avec neuropathie périphérique TMEM70-related mitochondrial encephalo-cardio-myopathy Paramyotonia congenita of Von Eulenburg Congenital myopathy with myasthenic-like onset Muscular dystrophy, Selcen type Isaacs syndrome Idiopathic inflammatory myopathy Amyotrophic lateral sclerosis type 4 Progressive external ophthalmoplegia-myopathy-emaciation syndrome Congenital myopathy with internal nuclei and atypical cores Spinal atrophy-ophthalmoplegia-pyramidal syndrome Motor neuron disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia X-linked Charcot-Marie-Tooth disease type 1 DNA2-related mitochondrial DNA deletion syndrome Autosomal dominant limb-girdle muscular dystrophy type 1E Charcot-Marie-Tooth disease type 1 Congenital muscular dystrophy with integrin alpha-7 deficiency Charcot-Marie-Tooth disease type 1B FASTKD2-related infantile mitochondrial encephalomyopathy Dermatomyositis Autosomal recessive centronuclear myopathy Hereditary sensory and autonomic neuropathy type 7 Autosomal dominant centronuclear myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2 Mitochondrial trifunctional protein deficiency Immune-mediated necrotizing myopathy Dejerine-Sottas syndrome Congenital lethal myopathy, Compton-North type Hereditary sensory and autonomic neuropathy type 5 Spinocerebellar ataxia with axonal neuropathy type 2 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Neurolymphomatosis Distal nebulin myopathy Neuropathy with hearing impairment Distal hereditary motor neuropathy type 1 Subacute inflammatory demyelinating polyneuropathy Laminin subunit alpha 2-related congenital muscular dystrophy Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy Limb-girdle muscular dystrophy Distal hereditary motor neuropathy type 2 Congenital muscular dystrophy with cerebellar involvement Facioscapulohumeral dystrophy Steinert myotonic dystrophy Distal hereditary motor neuropathy type 5 Infectious disease with peripheral neuropathy Focal myositis Congenital muscular dystrophy due to LMNA mutation Hereditary inclusion body myopathy type 4 Myotonic dystrophy Progressive muscular dystrophy Pure or complex hereditary spastic paraplegia Juvenile myasthenia gravis Transient neonatal myasthenia gravis Glycogen storage disease due to acid maltase deficiency Chronic inflammatory demyelinating polyneuropathy Postpoliomyelitis syndrome Congenital trochlear nerve palsy Combined hyperactive dysfunction syndrome of the cranial nerves Congenital oculomotor nerve palsy Trigeminal neuralgia Non-recovering obstetric brachial plexus lesion Ramsay Hunt syndrome Congenital muscular dystrophy Congenital myopathy Juvenile dermatomyositis Distal hereditary motor neuropathy Variant of Guillain-Barré syndrome Congenital muscular dystrophy with intellectual disability Ataxia-oculomotor apraxia type 4 Congenital muscular dystrophy without intellectual disability Distal hereditary motor neuropathy, Jerash type Hereditary myopathy with early respiratory failure Neonatal dermatomyositis Hereditary sensory and autonomic neuropathy type 1B Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation Juvenile primary lateral sclerosis Hereditary sensory and autonomic neuropathy with deafness and global delay Mutilating hereditary sensory neuropathy with spastic paraplegia Congenital muscular dystrophy with hyperlaxity X-linked hereditary sensory and autonomic neuropathy with deafness Distal hereditary motor neuropathy type 7 Congenital myopathy with reduced type 2 muscle fibers Autosomal dominant mitochondrial myopathy with exercise intolerance Peripheral motor neuropathy-dysautonomia syndrome Spheroid body myopathy Cap myopathy Cylindrical spirals myopathy Proximal myopathy with extrapyramidal signs Myopathy with hexagonally cross-linked tubular arrays X-linked myopathy with excessive autophagy Intellectual disability-developmental delay-contractures syndrome Congenital insensitivity to pain with severe intellectual disability Pure mitochondrial myopathy Lethal infantile mitochondrial myopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial DNA depletion syndrome, myopathic form Inflammatory myopathy with abundant macrophages Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Reducing body myopathy Rippling muscle disease Mitchell Syndrome Zebra body myopathy Rigid spine syndrome Benign Samaritan congenital myopathy Moderate multiminicore disease with hand involvement Classical dermatomyositis Congenital fiber-type disproportion myopathy Intermediate collagen VI-related muscular dystrophy Fatal infantile hypertonic myofibrillar myopathy Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Adermatopathic dermatomyositis Congenital-onset Steinert myotonic dystrophy Classic multiminicore myopathy Cardiomyopathy-hypotonia-lactic acidosis syndrome Late-onset Steinert myotonic dystrophy Autosomal dominant myoglobinuria Hereditary sensory and autonomic neuropathy type 6 Childhood-onset Steinert myotonic dystrophy Hereditary motor and sensory neuropathy type 6 Morvan syndrome Lewis-Sumner syndrome Hereditary sensory and autonomic neuropathy type 1 Myopathy and diabetes mellitus Mitochondrial myopathy-lactic acidosis-deafness syndrome MELAS Mitochondrial myopathy and sideroblastic anemia MERRF Congenital insensitivity to pain-anosmia-neuropathic arthropathy Congenital muscular dystrophy type 1B CANOMAD syndrome Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Young adult-onset distal hereditary motor neuropathy RFVT2-related riboflavin transporter deficiency Hereditary sensory neuropathy-deafness-dementia syndrome Myotonic syndrome Hereditary thermosensitive neuropathy Complex hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsies Cerebellar ataxia with peripheral neuropathy Mitochondrial neurogastrointestinal encephalomyopathy Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Adult-onset myasthenia gravis Primary lateral sclerosis Spinocerebellar ataxia with axonal neuropathy type 1 Congenital abducens nerve palsy Autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant adult-onset proximal spinal muscular atrophy Isolated complex III deficiency Muscle filaminopathy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Myosin storage myopathy Hereditary sensory and autonomic neuropathy type 2 Riboflavin transporter deficiency Hereditary continuous muscle fiber activity Hereditary sensory and autonomic neuropathy type 8 Fingerprint body myopathy