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Hereditary motor and sensory neuropathy type 1A associated with sensorineural deafness
  1. J STONE,
  2. G MORAN,
  3. T J WALLS
  1. Regional Neurosciences Centre, Newcastle General Hospital , Westgate Rd, Newcastle, UK
  1. Dr TJ Walls, Regional Neurosciences Centre, Newcastle General Hospital, Westgate Rd, Newcastle NE4 6BE, UK. Telephone 0044 191 273 8811 ext 22460; fax 0044 191 272 4823.

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The most common type of hereditary motor and sensory neuropathy type 1, HMSN 1A, is caused by a duplication of the gene for peripheral myelin protein 22 (PMP 22), situated on chromosome 17p. We report on a patient with this genotype with bilateral sensorineural deafness.

A 28 year old man presented with progressive distal weakness, numbness, and progressive bilateral hearing loss. He had first noticed problems with running in his early teens and at the age of 13 had two operations to correct bilateral pes cavus. His walking tolerance gradually deteriorated to half a mile unaided. At the age of 24, he had three operations to correct thoracic scoliosis and subsequently noticed progressive weakness of his hands. Since the age of 26 he had been aware of diminished sensation in his feet and progressive …

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