Charcot Marie Tooth disease 2DD (CMT2DD)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 2DD (CMT2DD). This is caused by mutations in the ATP1A1 gene on chromosome 1p. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ATP1A1 gene on chromosome 1p
- The mutations decouple ATP hydrolysis and phosphorylation
- The transmission is autosomal dominant
- The onset age is from childhood to adulthood
Clinical features
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Nerve conduction studies (NCS): features
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