Neuropathy With Hearing Impairment

This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.

Epidemiology

It has been described in members from four generations of a Spanish family.

Clinical description

The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation.

Etiology

Neuropathy with hearing impairment is caused by mutations in the GJB3 gene (1p34).

Genetic counseling

The syndrome is transmitted in an autosomal dominant manner.