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Tomaculous neuropathy MeSH Supplementary Concept Data 2024


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 Number
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 Preferred
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