View disease #00012

Official abbreviation CMT2A1
Name Charcot-Marie-Tooth (CMT) disease - demyelinating
OMIM ID 118200
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 3 genes GJB1, MPZ, PMP22
Associated tissues -
Disease features foot drop, hammer toe (curled toes), "stork leg" appearance due to wasting of muscle tissue of the lower parts of the legs, weakness in arms and forearms, loss of touch sensation in arms and legs, pes cavus/pes planus
Remarks In Cyprus, there are 16 : 100 000 cases. 52% are demyelinating, 15% are intermediate and 33% are axonal