tomaculous neuropathy (hereditary neuropathy with liability to pressure palsies)

Genetics

• autosomal dominant
• large deletion involving chromosome 17p11.2
• associated with defects in PMP22

Clinical manifestations

• recurrent transient weakness & sensory loss in the distribution of peripheral nerves that are commonly compressed
  • median nerve
  • ulnar nerve
  • radial nerve
  • peroneal nerve
• episodes occur after slight traction, compression or minor trauma

Laboratory

• nerve conduction studies
  • decreased nerve conduction velocity characteristic of demyelinating neuropathy

More general terms

• hereditary neuropathy

Database

• OMIM: https://mirror.omim.org/entry/162500