Familial Alstrom syndrome: a rare cause of bilateral progressive hearing loss.

ABSTRACT:

Introduction

Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characterized by a progressive degeneration of sensory functions, resulting in visual and audiological impairment, as well as metabolic disturbances such as childhood obesity, hyperinsulinemia, and diabetes mellitus type 2.

Objective

To report and discuss the genetic and audiological findings in two siblings with Alström syndrome.

Methods

This was a prospective, analytical and descriptive study, using questionnaires, serial audiograms, otoacoustic emissions, and auditory brainstem response analysis, as well as molecular genetic analysis.

Results

Both patients presented childhood-onset bilateral sensorineural hearing loss, which progressed to moderate impairment in the first

SUBMITTER: Bahmad F 

PROVIDER: S-EPMC9443977 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature