Tomaculous neuropathy

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

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Arthrogryposis: 324
    - Tomaculous neuropathy: 166
- Joint Diseases: 6509
  - Arthrogryposis: 324
    - Tomaculous neuropathy: 166
- Musculoskeletal Abnormalities: 43
  - Arthrogryposis: 324
    - Tomaculous neuropathy: 166
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Arthrogryposis: 324
      - Tomaculous neuropathy: 166
  - Nervous System Malformations: 35
    - Hereditary Sensory and Motor Neuropathy: 249
      - Tomaculous neuropathy: 166
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Tomaculous neuropathy: 166
Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Tomaculous neuropathy: 166
- Neuromuscular Diseases: 2005
  - Peripheral Nervous System Diseases: 11383
    - Polyneuropathies: 5118
      - Hereditary Sensory and Motor Neuropathy: 249
        Tomaculous neuropathy: 166
- Nervous System Malformations: 35
  - Hereditary Sensory and Motor Neuropathy: 249
    - Tomaculous neuropathy: 166

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