A dominantly inherited peripheral neuropathy characterized by an abnormal susceptibility to pressure-induced nerve palsies.
Overview
- Definition: A dominantly inherited peripheral neuropathy characterized by an abnormal susceptibility to pressure-induced nerve palsies.
- Epidemiology: Rare in childhood; more common in adolescence and adulthood.
- Pathophysiology:
- Caused by a deletion on chromosome 17 affecting the PMP22 gene, the same region duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A).
- Unequal crossing-over during meiosis is the proposed mechanism.
- Some cases linked to point mutations in PMP22 gene without a deletion.
Clinical Features