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Hearing loss in facioscapulohumeral muscular dystrophy
O F Brouwer1, G W Padberg, C J Ruys
1Department of Neurology, University of Leiden, The Netherlands.
Neurology
|December 1, 1991
Summary
Facioscapulohumeral muscular dystrophy (FSHD) is linked to hearing loss. This study found specific hearing changes in FSHD patients, suggesting it’s part of the disease, not genetic heterogeneity.
Area of Science:
- Genetics
- Neurology
- Otolaryngology
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is a genetic myopathy.
- Co-occurrence of FSHD with hearing loss and retinal issues suggests potential genetic heterogeneity.
- Autosomal dominant inheritance is a key characteristic of FSHD.
Purpose of the Study:
- To investigate hearing function in patients with autosomal dominant FSHD.
- To determine if hearing loss is a component of FSHD or indicative of genetic heterogeneity.
- To analyze audiometric differences between FSHD patients and healthy family members.
Main Methods:
- Screening audiometry was conducted on 56 patients diagnosed with FSHD.
- Audiometry was also performed on 72 healthy individuals from FSHD families.
- Hearing levels were compared, focusing on the difference between 4,000 Hz and 6,000 Hz in both ears.
Main Results:
- A significantly greater hearing level difference between 4,000 Hz and 6,000 Hz was observed in FSHD patients compared to controls.
- This hearing difference was consistent in both the left and right ears.
- The hearing alteration was present across all studied families.
Conclusions:
- The identified hearing function change is an integral part of facioscapulohumeral muscular dystrophy.
- This hearing impairment may progress to severe hearing loss in affected individuals.
- The consistent presence of this hearing change across families supports the conclusion against genetic heterogeneity of FSHD.