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Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Disease definition
A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.
ORPHA:435387
Classification level: Disorder- Synonym(s):
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
- CMT2 due to VCP mutation
- CMT2Y
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Childhood, Adult
- ICD-10: G60.0
- OMIM: 616687
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- English (2014, pdf)
- Deutsch (2014, pdf)
- Clinical practice guidelines
- Deutsch (2015)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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