Zentrum für seltene neuromuskuläre Erkrankungen am Universitätsklinikum Bonn Assigned 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