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for People with Rare Diseases

Zentrum für seltene neuromuskuläre Erkrankungen am Universitätsklinikum Bonn

Description of facility

Director / Spokesperson
Prof. Dr. med. Cornelia Kornblum
Information
Care facility for adults
Description

Das Zentrum für seltene neurologische Bewegungsstörungen, Muskelerkrankungen und Epilepsien innerhalb des ZSEB wird von den Kliniken für Neurologie und Epileptologie des Universitätsklinikums und dem Deutschen Zentrum für Neurodegenerative Erkrankungen (DZNE) getragen.

Das Zentrum wendet sich an Patienten mit seltenen Bewegungsstörungen, insbesondere Ataxien, atypischen Parkinson-Syndromen und Dystonien, Muskelkrankheiten einschließlich der mitochondrialen Erkrankungen und Myotonen Dystrophien sowie seltenen Formen von Epilepsien wie genetisch bedingten Epilepsien und limbischer Enzephalitis.

Die Klinik für Neurologie ist eng mit dem DZNE verzahnt, zu dessen Aufgaben auch die Erforschung seltener neurodegenerativer Krankheiten zählt. Muskelkrankheiten sind ein traditioneller klinischer und wissenschaftlicher Schwerpunkt der Klinik für Neurologie. Die Patientenversorgung profitiert vor allem vom eigenen diagnostischen Muskellabor.

Die neurologische Klinik ist Teil des Muskelzentrums Nordrhein und von der Deutschen Gesellschaft für Muskelkranke e.V. zertifiziert. Die Klinik für Epileptologie als eigenständige universitäre Klinik für diese Indikation nimmt national und international eine Führungsrolle bei der Implementierung neuer Therapien (Epilepsiechirurgie, Vagusnerv-Stimulation, Tiefenhirnstimulation, invasive EEG-Ableitungen) und der Erforschung der Ursachen und Mechanismen von Epilepsien ein.

Consultation hours

telefonische Erreichabrkeit: 9:00 - 12:00 Uhr.

Care provisions

This facility offers the following
  • Diagnostic
  • Therapy

Contact

Prof. Dr. med. Cornelia Kornblum
0228 28715714
0228 28711511
neurologie@uni-bonn.de
Website https://zseb.ukbonn.de/b-zentren/seltene-neurologische-erkrankungen/neuromuskulaere-erkrankungen/

Address

Venusberg Campus 1
53127 Bonn

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Languages

Germany.png Deutsch
United_Kingdom.png Englisch

European Reference Network 2

Preview of the assigned diseases 9

Myasthenia gravis Amyotrophic lateral sclerosis Hereditary spastic paraplegia Polymyositis Congenital myasthenic syndrome Mitochondrial myopathy Refsum disease Muscular dystrophy Late-onset Steinert myotonic dystrophy Autosomal dominant myoglobinuria Hereditary sensory and autonomic neuropathy type 6 Childhood-onset Steinert myotonic dystrophy Morvan syndrome Juvenile-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy Tubular aggregate myopathy 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 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Congenital myasthenic syndromes with glycosylation defect EMILIN-1-related connective tissue disease Adenosine monophosphate deaminase deficiency Isolated complex I deficiency Progressive muscular atrophy Guillain-Barré syndrome Juvenile amyotrophic lateral sclerosis Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Ullrich congenital muscular dystrophy Congenital insensitivity to pain-anosmia-neuropathic arthropathy Congenital muscular dystrophy type 1B Becker muscular dystrophy Congenital muscular dystrophy type 1D Duchenne muscular dystrophy X-linked centronuclear myopathy Central core disease Multiminicore myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with excess of thin filaments GNE myopathy Desminopathy Non-paraneoplastic sensory ganglionopathy Distal myotilinopathy Postsynaptic congenital myasthenic syndromes Myosclerosis Late-onset distal myopathy, Markesbery-Griggs type Tibial muscular dystrophy Synaptic congenital myasthenic syndromes GMPPB-related limb-girdle muscular dystrophy R19 Bethlem muscular dystrophy Presynaptic congenital myasthenic syndromes Paraneoplastic sensory ganglionopathy Potassium-aggravated myotonia Acute motor and sensory axonal neuropathy Acute inflammatory demyelinating polyradiculoneuropathy Miller Fisher syndrome Acute motor axonal neuropathy Myotonic syndrome Hereditary thermosensitive neuropathy Complex hereditary spastic paraplegia Pure hereditary spastic paraplegia Congenital myotonia Hereditary neuropathy with liability to pressure palsies Periodic paralysis Cramp-fasciculation syndrome Hereditary motor and sensory neuropathy Juvenile idiopathic inflammatory myopathy Paramyotonia congenita of Von Eulenburg Idiopathic inflammatory myopathy Progressive hemifacial atrophy X-linked Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1B Dermatomyositis Autosomal dominant Charcot-Marie-Tooth disease type 2 Infectious disease with peripheral neuropathy Focal myositis 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 Motor neuron disease 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 Hereditary motor and sensory neuropathy type 6 Friedreich ataxia Dejerine-Sottas syndrome Brody myopathy Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Hereditary myopathy with lactic acidosis due to ISCU deficiency Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Hereditary sensory neuropathy-deafness-dementia syndrome Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG Multifocal motor neuropathy Progressive bulbar paralysis of childhood Madras motor neuron disease Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Monomelic amyotrophy Neurogenic scapuloperoneal syndrome, Kaeser type Multiple pterygium-malignant hyperthermia syndrome TMEM70-related mitochondrial encephalo-cardio-myopathy Muscular dystrophy, Selcen type Cerebellar ataxia with peripheral neuropathy Congenital myopathy with internal nuclei and atypical cores Autosomal dominant limb-girdle muscular dystrophy type 1E Congenital muscular dystrophy with integrin alpha-7 deficiency FASTKD2-related infantile mitochondrial encephalomyopathy Autosomal recessive centronuclear myopathy Mitochondrial trifunctional protein deficiency Congenital lethal myopathy, Compton-North type Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Neurolymphomatosis Neuropathy with hearing impairment Subacute inflammatory demyelinating polyneuropathy Duchenne and Becker muscular dystrophy Limb-girdle muscular dystrophy Facioscapulohumeral dystrophy Distal hereditary motor neuropathy type 5 Early-onset myopathy with fatal cardiomyopathy Congenital trigeminal anesthesia CANOMAD syndrome Young adult-onset distal hereditary motor neuropathy RFVT2-related riboflavin transporter deficiency Hereditary sensory and autonomic neuropathy type 4 Giant axonal neuropathy Isolated succinate-CoQ reductase deficiency RFVT3-related riboflavin transporter deficiency Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Congenital myopathy, Paradas type Desmin-related myopathy with Mallory body-like inclusions Rare hereditary metabolic disease with peripheral neuropathy Congenital myopathy with myasthenic-like onset Isaacs syndrome Amyotrophic lateral sclerosis type 4 Progressive external ophthalmoplegia-myopathy-emaciation syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome Inclusion body myopathy with Paget disease of bone and frontotemporal dementia DNA2-related mitochondrial DNA deletion syndrome Hereditary sensory and autonomic neuropathy type 7 Autosomal dominant centronuclear myopathy Immune-mediated necrotizing myopathy Hereditary sensory and autonomic neuropathy type 5 Spinocerebellar ataxia with axonal neuropathy type 2 Distal nebulin myopathy Distal hereditary motor neuropathy type 1 Laminin subunit alpha 2-related congenital muscular dystrophy Emery-Dreifuss muscular dystrophy Distal hereditary motor neuropathy type 2 Congenital muscular dystrophy with cerebellar involvement Steinert myotonic dystrophy Congenital muscular dystrophy due to LMNA mutation Hereditary inclusion body myopathy type 4 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 Mitochondrial neurogastrointestinal encephalomyopathy 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 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Adult-onset myasthenia gravis 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 Primary lateral sclerosis 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 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 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

Provided care options 1

# Contact person
1
Spezialambulanz für Ataxien und hereditäre spastische Paraparese (HSP)
Prof. Dr. med. Thomas Klockgether

0228 28715714
Website
Sprechzeiten nach Vereinbarung.

7.10464191421588850.700016Zentrum für seltene neuromuskuläre Erkrankungen am Universitätsklinikum Bonn
Last updated: 02.10.2023