Tomaculous neuropathy [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536965
Heading Mapped to:
Entry Terms:
- Polyneuropathy, familial recurrent
- Hereditary Neuropathy with Liability to Pressure Palsy
- Neuropathy, Hereditary, With Liability To Pressure Palsies
- Hereditary Neuropathy with Liability To Pressure Palsies
- Compression Neuropathy
- Familial Pressure Sensitive Neuropathy
- Hereditary Pressure Sensitive Neuropathy
- Inherited Tendency To Pressure Palsies