Hereditary Neuropathy with Pressure Palsy (HNPP)
摘要
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder caused by deletion or point mutation at 17p11.2–12. It is characterized by repeated focal pressure neuropathies, usually occurring in the second or third decades. Electrodiagnostic study shows the characteristic pattern. Genetic testing is confirmatory. Treatment is mainly preventive and symptomatic.