SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that are treated in this facility:
Acute inflammatory demyelinating polyradiculoneuropathy Acute motor and sensory axonal neuropathy Acute motor axonal neuropathy Adenosine monophosphate deaminase deficiency Adermatopathic dermatomyositis Adult-onset Steinert myotonic dystrophy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset myasthenia gravis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 4 Ataxia-oculomotor apraxia type 4 Autosomal dominant Charcot-Marie-Tooth disease type 2 Autosomal dominant adult-onset proximal spinal muscular atrophy Autosomal dominant centronuclear myopathy Autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Autosomal dominant limb-girdle muscular dystrophy type 1E Autosomal dominant mitochondrial myopathy with exercise intolerance Autosomal dominant myoglobinuria Autosomal recessive centronuclear myopathy Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Becker muscular dystrophy Benign Samaritan congenital myopathy Bethlem muscular dystrophy Brody myopathy CANOMAD syndrome Cap myopathy Cardiomyopathy-hypotonia-lactic acidosis syndrome Central core disease Cerebellar ataxia with peripheral neuropathy Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1B Childhood-onset Steinert myotonic dystrophy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Chronic inflammatory demyelinating polyneuropathy Classic multiminicore myopathy Classical dermatomyositis Combined hyperactive dysfunction syndrome of the cranial nerves Complex hereditary spastic paraplegia Congenital abducens nerve palsy Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Congenital fiber-type disproportion myopathy Congenital insensitivity to pain with severe intellectual disability Congenital insensitivity to pain-anosmia-neuropathic arthropathy Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation Congenital lethal myopathy, Compton-North type Congenital multicore myopathy with external ophthalmoplegia Congenital muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy type 1B Congenital muscular dystrophy type 1D Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with hyperlaxity Congenital muscular dystrophy with integrin alpha-7 deficiency Congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy without intellectual disability Congenital myasthenic syndrome Congenital myasthenic syndromes with glycosylation defect Congenital myopathy Congenital myopathy with excess of thin filaments Congenital myopathy with internal nuclei and atypical cores Congenital myopathy with myasthenic-like onset Congenital myopathy with reduced type 2 muscle fibers Congenital myopathy, Paradas type Congenital myotonia Congenital oculomotor nerve palsy Congenital trigeminal anesthesia Congenital trochlear nerve palsy Congenital-onset Steinert myotonic dystrophy Cramp-fasciculation syndrome Cylindrical spirals myopathy DNA2-related mitochondrial DNA deletion syndrome Dejerine-Sottas syndrome Dermatomyositis Desmin-related myopathy with Mallory body-like inclusions Desminopathy Distal hereditary motor neuropathy 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 myotilinopathy Distal nebulin myopathy Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy EMILIN-1-related connective tissue disease Early-onset myopathy with fatal cardiomyopathy Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Emery-Dreifuss muscular dystrophy FASTKD2-related infantile mitochondrial encephalomyopathy Facioscapulohumeral dystrophy Fatal infantile hypertonic myofibrillar myopathy Fingerprint body myopathy Focal myositis Friedreich ataxia GMPPB-related limb-girdle muscular dystrophy R19 GNE myopathy Giant axonal neuropathy Glycogen storage disease due to acid maltase deficiency Guillain-Barré syndrome Hereditary continuous muscle fiber activity Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy type 6 Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary neuropathy with liability to pressure palsies Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy with deafness and global delay Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary spastic paraplegia Hereditary thermosensitive neuropathy Idiopathic inflammatory myopathy Immune-mediated necrotizing myopathy Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Infectious disease with peripheral neuropathy Inflammatory myopathy with abundant macrophages Intellectual disability-developmental delay-contractures syndrome Intermediate collagen VI-related muscular dystrophy Isaacs syndrome Isolated complex I deficiency Isolated complex III deficiency Isolated succinate-CoQ reductase deficiency Juvenile amyotrophic lateral sclerosis Juvenile dermatomyositis Juvenile idiopathic inflammatory myopathy Juvenile myasthenia gravis Juvenile primary lateral sclerosis Juvenile-onset Steinert myotonic dystrophy Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Late-onset Steinert myotonic dystrophy Late-onset distal myopathy, Markesbery-Griggs type Lethal infantile mitochondrial myopathy Lewis-Sumner syndrome Limb-girdle muscular dystrophy MELAS MERRF Madras motor neuron disease Miller Fisher syndrome Mitchell Syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial trifunctional protein deficiency Moderate multiminicore disease with hand involvement Monomelic amyotrophy Morvan syndrome Motor neuron disease Multifocal motor neuropathy Multiminicore myopathy Multiple pterygium-malignant hyperthermia syndrome Muscle filaminopathy Muscular dystrophy Muscular dystrophy, Selcen type Mutilating hereditary sensory neuropathy with spastic paraplegia Myasthenia gravis Myopathy and diabetes mellitus Myopathy with hexagonally cross-linked tubular arrays Myosclerosis Myosin storage myopathy Myotonic dystrophy Myotonic syndrome Neonatal dermatomyositis Neurogenic scapuloperoneal syndrome, Kaeser type Neurolymphomatosis Neuropathy with hearing impairment Non-paraneoplastic sensory ganglionopathy Non-recovering obstetric brachial plexus lesion Paramyotonia congenita of Von Eulenburg Paraneoplastic sensory ganglionopathy Periodic paralysis Peripheral motor neuropathy-dysautonomia syndrome Polymyositis Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG Postpoliomyelitis syndrome Postsynaptic congenital myasthenic syndromes Potassium-aggravated myotonia Presynaptic congenital myasthenic syndromes Primary lateral sclerosis Progressive bulbar paralysis of childhood Progressive external ophthalmoplegia-myopathy-emaciation syndrome Progressive hemifacial atrophy Progressive muscular atrophy Progressive muscular dystrophy Proximal myopathy with extrapyramidal signs Pure hereditary spastic paraplegia Pure mitochondrial myopathy Pure or complex hereditary spastic paraplegia RFVT2-related riboflavin transporter deficiency RFVT3-related riboflavin transporter deficiency Ramsay Hunt syndrome Rare hereditary metabolic disease with peripheral neuropathy Reducing body myopathy Refsum disease Riboflavin transporter deficiency Rigid spine syndrome Rippling muscle disease Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Spheroid body myopathy Spinal atrophy-ophthalmoplegia-pyramidal syndrome Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Steinert myotonic dystrophy Subacute inflammatory demyelinating polyneuropathy Synaptic congenital myasthenic syndromes TMEM70-related mitochondrial encephalo-cardio-myopathy Tibial muscular dystrophy Transient neonatal myasthenia gravis Trigeminal neuralgia Tubular aggregate myopathy Ullrich congenital muscular dystrophy Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Variant of Guillain-Barré syndrome X-linked Charcot-Marie-Tooth disease type 1 X-linked centronuclear myopathy X-linked hereditary sensory and autonomic neuropathy with deafness X-linked myopathy with excessive autophagy Young adult-onset distal hereditary motor neuropathy Zebra body myopathy