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Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels
Insights
Facioscapulohumeral dystrophy (FSHD) may also cause hearing loss and retinal vessel abnormalities. This suggests FSHD might have broader effects than previously known.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Facioscapulohumeral dystrophy (FSHD) is a genetic myopathy.
- The typical presentation involves progressive muscle weakness.
Observation:
- A family presented with FSHD, sensorineural hearing loss, and retinal vessel tortuosity.
- Children initially showed speech and hearing difficulties, with hearing loss varying from mild to severe.
- Audiologic evaluations confirmed cochlear hearing loss with intact auditory pathways.
Findings:
- The study identified a co-occurrence of FSHD, sensorineural hearing loss, and retinal vascular abnormalities.
- Auditory brainstem response testing indicated the hearing loss originated in the cochlea.
- These combined symptoms suggest potential new manifestations of FSHD.
Implications:
- The findings suggest possible pleiotropy of FSHD, affecting multiple organ systems.
- This association may indicate a novel subtype of FSHD.
- Further research is needed to understand the full spectrum of FSHD manifestations.
Abstract:
We report on a mother and her three children with facioscapulohumeral dystrophy (FSHD), sensorineural hearing loss, and marked tortuosity of the retinal vessels. Initially the children presented with speech difficulties and hearing deficit. Hearing loss ranged from mild to severe. An audiologic evaluation, including brain stem auditory evoked responses in all patients, indicated a cochlear origin of hearing loss and intact pathways from the cochlea to the temporal lobe. The association of FSHD with hearing loss and tortuosity of the retinal vessels suggests previously unrecognized pleiotropy of FSHD (McKusick 15890) or a "new" type of FSHD.