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: 751
- Muscular Diseases: 10368
  - Arthrogryposis: 333
    - Tomaculous neuropathy: 170
- Joint Diseases: 6625
  - Arthrogryposis: 333
    - Tomaculous neuropathy: 170
- Musculoskeletal Abnormalities: 46
  - Arthrogryposis: 333
    - Tomaculous neuropathy: 170
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Musculoskeletal Abnormalities: 46
    - Arthrogryposis: 333
      - Tomaculous neuropathy: 170
  - Nervous System Malformations: 36
    - Hereditary Sensory and Motor Neuropathy: 260
      - Tomaculous neuropathy: 170
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Tomaculous neuropathy: 170
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Tomaculous neuropathy: 170
- Neuromuscular Diseases: 2048
  - Peripheral Nervous System Diseases: 11768
    - Polyneuropathies: 5219
      - Hereditary Sensory and Motor Neuropathy: 260
        Tomaculous neuropathy: 170
- Nervous System Malformations: 36
  - Hereditary Sensory and Motor Neuropathy: 260
    - Tomaculous neuropathy: 170

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