/Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A

Rare Disease

MONDO:0007309

Also Known As

CMT1ACharcot-Marie-Tooth disease type 1ACharcot-Marie-Tooth disease, type 1ACharcot-Marie-Tooth neuropathy type 1ACharcot-Marie-Tooth syndrome type 1AHMSN1Aautosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1Ahereditary motor and sensory neuropathy 1Amicroduplication 17p12CMT 1ACharcot Marie Tooth disease type 1ACharcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1ACharcot-Marie-Tooth disease, demyelinating, type 1ACharcot-Marie-Tooth neuropathy, type 1AHMSN 1A

Definition

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.