A hereditary neuropathy and arthrogryposis that manifests after prolonged periods of work in a kneeling position. It typically occurs in young adult males and is characterized by nerve conduction block and electrophysiologic abnormalities; segmental DEMYELINATION; and the presence of of sausage-shaped (tomaculous) swellings along the MYELIN SHEATH of sensory and motor nerves. Germline mutations and deletions in the PMP22 gene have been identified. OMIM: 162500
Also Known As:
Compression Neuropathy; Familial Pressure Sensitive Neuropathy; Hereditary Neuropathy with Liability To Pressure Palsies; Hereditary Neuropathy with Liability to Pressure Palsy; Hereditary Pressure Sensitive Neuropathy; Inherited Tendency To Pressure Palsies; Neuropathy, Hereditary, With Liability To Pressure Palsies; Polyneuropathy, familial recurrent