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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
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Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function.

Carlo P Trevisan1, Ebe Pastorello, Mario Ermani

  • 1Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy. carlopietro.trevisan@unipd.it

Audiology & Neuro-Otology
|August 24, 2007
PubMed
Summary

Hearing loss is not more common in typical facioscapulohumeral muscular dystrophy (FSHD) patients than in the general population. This multicenter study found no significant auditory impairment in FSHD individuals without other risk factors for deafness.

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Area of Science:

  • Neurology
  • Genetics
  • Audiology

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy linked to a 4q35 deletion.
  • Infantile-onset FSHD often presents with sensorineural hearing loss, but hearing impairment in typical late-onset FSHD remains controversial.

Purpose of the Study:

  • To investigate auditory impairment in patients with genetically confirmed facioscapulohumeral muscular dystrophy (FSHD).
  • To determine if hearing loss is more prevalent in typical FSHD compared to the general population.

Main Methods:

  • A multicenter study evaluated 73 FSHD patients with confirmed diagnoses.
  • 49 patients without other risk factors for deafness underwent pure-tone audiometry.
  • Audiometric thresholds were compared to 55 control subjects.

Main Results:

  • No patients were aware of hearing loss.
  • 4 patients showed elevated thresholds at high frequencies (4000 and 8000 Hz).
  • Mean audiometric thresholds in FSHD patients did not significantly differ from controls.

Conclusions:

  • Hearing loss is not more prevalent in typical facioscapulohumeral muscular dystrophy (FSHD) than in the general population.
  • Factors like age of onset, muscle weakness, or 4q35 EcoRI fragment size did not correlate with auditory thresholds in FSHD.