Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant progressive myopathy, characteristically associated with a 4q35 deletion. In the unusual infantile-onset form of this degenerative disease, sensorineural hearing loss is a frequent clinical manifestation, whereas in patients with typical late-onset FSHD, investigations regarding hearing impairment yielded controversial results. We describe the findings of a multicenter investigation on possible auditory impairment in a series of 73 FSHD patients with a genetically confirmed diagnosis. Among them, 49 cases with no risk factors for deafness, aside from the disease, were identified by a clinical questionnaire and otoscopic examination (mean age 37.8 years, 31 males and 18 females). These subjects were evaluated by pure-tone audiometry. None were aware of hearing loss, while 4 had raised unilateral or bilateral pure-tone audiometric thresholds at 4000 and 8000 Hz, when evaluated by standardized tables. However, the mean raw pure-tone audiometric threshold values for these 49 cases were not significantly different from those of 55 controls (mean age 37.1 years, 32 males and 23 females). Moreover, by statistical analysis, age of onset, degree of muscular weakness and 4q35 EcoRI fragment size made no significant difference to auditory thresholds in our FSHD patients. Overall, the results of our multicenter study suggest that hearing loss in typical FSHD is not more prevalent than in the normal population.

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

“…Interestingly, most of them experienced pain and fatigue, symptoms frequently reported by FSHD1 patients,31 and one of them (P3) had sensorineural hearing loss, a feature described in 25%–65% of FSHD1 patients 32. CK values were normal to twofold elevated, and muscle biopsy showed only mild dystrophic changes.…”

Risk of functional impairment in Facioscapulohumeral muscular dystrophy

“…Although retinal vascular abnormalities can be seen in up to 50% of patients with FSHD, symptomatic retinal disease (Coats syndrome) is quite rare . High frequency hearing loss has been reported in over half of FSHD patients, but the relevance of this has been questioned . One study suggested the level of hearing impairment is no greater than what would be expected for age .…”

“…High frequency hearing loss has been reported in over half of FSHD patients, but the relevance of this has been questioned . One study suggested the level of hearing impairment is no greater than what would be expected for age . That said, there is a subgroup of patients, typically with the largest contractions and earliest onset of disease, who require hearing aids …”

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north‐east Italian population sample

“…Specifically, muscle involvement was evaluated for each FSHD subject by a seven-grade 'Weakness Scale' (11,12), ranging from 0 (no weakness) to 7 (profound weakness in lower region muscles and/or severe or profound in upper region muscles) through grades I (mild weakness in scapulohumeral or in lower limb muscles), II (mild in both upper and lower region muscles), III (moderate in upper or lower region muscles), IV (moderate in both upper and lower region muscles), V (severe in upper or lower region muscles) and VI (severe in both upper and lower region muscles). Specifically, muscle involvement was evaluated for each FSHD subject by a seven-grade 'Weakness Scale' (11,12), ranging from 0 (no weakness) to 7 (profound weakness in lower region muscles and/or severe or profound in upper region muscles) through grades I (mild weakness in scapulohumeral or in lower limb muscles), II (mild in both upper and lower region muscles), III (moderate in upper or lower region muscles), IV (moderate in both upper and lower region muscles), V (severe in upper or lower region muscles) and VI (severe in both upper and lower region muscles).…”