MeSH Browser

MeSH Supplementary: Tomaculous neuropathy
Unique ID: C536965
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536965
Entry Term(s): 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
Registry Numbers: 0
Heading Mapped to: *Arthrogryposis; *Hereditary Sensory and Motor Neuropathy
Frequency: 157
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Tomaculous neuropathy MeSH Supplementary Concept Data 2025