From the Research
Fascioscapulohumeral muscular dystrophy (FSHD) does not typically cause sensorineural hearing loss in the majority of patients, with the exception of those with infantile-onset disease or large 4q35 deletions. The relationship between FSHD and hearing loss is complex, and the evidence suggests that hearing loss is not a common feature of the disease in most patients. According to a study published in 2008 1, the results of a multicenter investigation on possible auditory impairment in a series of 73 FSHD patients with a genetically confirmed diagnosis found that hearing loss was not more prevalent than in the normal population.
However, some studies suggest that patients with infantile-onset FSHD or large 4q35 deletions may be at higher risk of developing hearing loss. A study published in 2008 2 found that sensorineural hearing loss was a frequent clinical manifestation in patients with infantile-onset FSHD, and that hearing loss was associated with mental retardation and epilepsy in some cases. Another study published in 2015 3 recommended that patients with childhood-onset FSHD should be screened for hearing loss through audiometry, as undetected hearing loss may impair language development.
The genetic mechanisms underlying FSHD and hearing loss are not fully understood, but it is thought that the abnormal expression of the DUX4 gene may play a role. A study published in 2013 4 found that FSHD patients with small EcoRI/BlnI fragment sizes were more likely to have hearing loss, and that the hearing loss was typically bilateral, progressive, and sloping, with onset in childhood.
In terms of management, regular audiological monitoring is recommended for FSHD patients, especially those with early-onset disease, as early intervention with hearing aids or cochlear implants can significantly improve quality of life. The severity of hearing loss does not necessarily correlate with the severity of muscle weakness in affected individuals, and patients with FSHD should be screened for hearing loss regardless of their muscle weakness status.
Some key points to consider include:
- Hearing loss is not a common feature of FSHD in most patients
- Patients with infantile-onset FSHD or large 4q35 deletions may be at higher risk of developing hearing loss
- The genetic mechanisms underlying FSHD and hearing loss are not fully understood, but may involve the abnormal expression of the DUX4 gene
- Regular audiological monitoring is recommended for FSHD patients, especially those with early-onset disease
- Early intervention with hearing aids or cochlear implants can significantly improve quality of life in patients with FSHD and hearing loss.