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Autosomal dominant Charcot-Marie-Tooth disease type 2U
Disease definition
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
ORPHA:397735
Classification level: Disorder- Synonym(s):
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
- CMT2U
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adult
- ICD-10: G60.0
- OMIM: 616280
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Clinical practice guidelines
- Deutsch (2015)
- Français (2020, pdf)
- Clinical genetics review
- English (2016)
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