hereditary neuropathy with liability to pressure palsies
- hereditary neuropathy with liability to pressure palsies
- (HNPP) an autosomal dominant neuropathy due to deletion of the PMP22 gene (locus: 17p11.2), which encodes a specific myelin protein; it is allelic with Charcot-Marie-Tooth disease type IA , which is caused by duplication of that gene. It is characterized by pain, weakness, and pressure palsy in the arms and hands with onset in childhood or adolescence; myelin sheaths become swollen and sausage-shaped but there is neither demyelination nor damage to axons. Called also tomaculous n.
Medical dictionary.
2011.
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