Hereditary Neuropathy with Liability to Pressure Palsies
Autoszomális domináns
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.
Mit változtat a diagnózis
Avoiding prolonged pressure on nerves, rapid weight loss and vincristine chemotherapy; supportive care such as splints during episodes.
Vizsgált gének
Más néven
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
