Congenital muscular dystrophy with intellectual disability and severe epilepsy
Parent facilities 0
Genetic Advices 2
Institut für Medizinische Genetik und Humangenetik an der Charité Berlin
Berliner Centrum für Seltene Erkrankungen (BCSE) Charité Universitätsmedizin Berlin
Augustenburger Platz 1
13353 Berlin
030 450569122
030 450569915
Website
MGZ Medizinisch Genetisches Zentrum München
Bayerstr. 3-5
80335 München
089 30908860
089 309088666
Website
Email
Care facilities 3
Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Botulism
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Guillain-Barré syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Mitochondrial disease
- Neuroferritinopathy
- Neurodegeneration with brain iron accumulation
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Leukodystrophy
- Hereditary spastic paraplegia
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Atypical pantothenate kinase-associated neurodegeneration
- Rare ataxia
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Disorder of amino acid and other organic acid metabolism
- Respiratory malformation
- Disorder of lipid metabolism
- Primary ciliary dyskinesia
- Cystic fibrosis
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Autosomal recessive polycystic kidney disease