Hereditary Neuropathy with Liability to Pressure Palsies
Autozomálně dominantní
A peripheral neuropathy caused by loss of one copy of PMP22, leading to recurrent pressure-related nerve palsies such as foot drop or carpal tunnel symptoms.
Co se diagnózou změní
Avoiding prolonged pressure on nerves, rapid weight loss and vincristine chemotherapy; supportive care such as splints during episodes.
Analyzované geny
Známé také jako
current pressure-sensitive neuropathy; hereditary liability to pressure palsies; hereditary neuropathy with liability to pressure palsy; heterozygous microdeletion 17p11.2p12; HNPP; neuropathy, recurrent, with pressure palsies; potato-grubbing palsy; Tomaculous neuropathy; tulip-bulb digger's palsy
