Charcot-Marie-Tooth disease type 1A
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.
MONDO:0016950
partial duplication of the short arm of chromosome 17
is_a
MONDO:0019011
Charcot-Marie-Tooth disease type 1
is_a
CMT 1A
related
CMT1A
exact
Charcot Marie Tooth disease type 1A
related
Charcot-Marie-Tooth disease type 1A
exact
Charcot-Marie-Tooth disease, demyelinating, type 1A
related
Charcot-Marie-Tooth disease, type 1A
exact
Charcot-Marie-Tooth syndrome type 1A
exact
HMSN 1A
related
HMSN1A
exact
hereditary motor and sensory neuropathy 1A
exact
microduplication 17p12
exact