Abstract
Facioscapulohumeral muscular dystrophy (FSHD) has an estimated prevalence of 4–7 per 100,000 population, making it the third most common type of muscular dystrophy. The classic form of FSHD is characterized by weakness that is slowly progressive and often asymmetric in the face, scapulae, upper arms, lower legs, and abdomen. The age at onset of symptoms varies from infancy to middle age, and life expectancy is normal or almost normal. Aside from muscle weakness, other manifestations include chronic pain, hearing loss, retinal telangiectasias and exudation (Coats syndrome) that can progress to retinal detachment and vision loss, cardiac arrhythmias, cognitive impairment, and epilepsy.1 There seems to be an increased prevalence of hearing loss in FSHD compared with the general population. Hearing loss has been described particularly in patients with infantile-onset FSHD but also in typical cases.2 In severe infantile-onset cases, the hearing loss can be profound, and if not detected may lead to delayed language development and even the false perception of cognitive impairment. Consensus-based recommendations suggest routine hearing testing in infants and preschool-age children diagnosed with FSHD.3
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