What is CMT?
Inherited peripheral neuropathy with muscle weakness and atrophy.
Symptoms
Lower limb weakness, gait disturbance and foot deformity.
Genetic causes
Mutations or duplication of PMP22, MFN2 and dozens of other genes.
Inheritance pattern
Dominant, recessive or X-linked depending on subtype.
Important genes
PMP22, MFN2, GJB1.
Who should be tested?
Individuals with unexplained peripheral neuropathy and family history.
Recommended tests
MLPA and CMT panel or WES.
Counseling
Family risk depends on inheritance pattern.