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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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