ArticleThe application of clinical genetics2026
Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) - Case Study.
Article in The application of clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: The aim of the study was to evaluate hearing, voice, and speech in 10-year-old boy with fascio-scapulo-humeral dystrophy (FSHD). Patients and Methods: Hearing, voice, and speech were assessed in a 10-year-old boy with FSHD due to scarcity of detailed audiophonological assessment in this disorder. Evaluation of muscle tension in upper and lower limb posture, gait, muscle enzyme activity, ECG, USG, bone densitometry, lower limb muscles MRI, handgrip strength were conducted. Hearing was examined using pure-tone, impedance, speech audiometry, and DPOAE. Voice assessment included GRBAS and endoscopic laryngeal examinations. Speech evaluation was conducted using Child Speech Assessment Cards (Karty Oceny Logopedycznej Dziecka, KOLD). Results: Diagnosis of FSHD was genetically confirmed by haplotype testing. Muscle hypotonia and atrophy were observed in limbs and face, along with gait disturbances. The 6-minute walk test (6MWT) result was 570 m, and the upper limb muscle strength was 9.3 kg (right limb) and 11.0 kg (left limb), both limbs: 15.7 kg. Audiological evaluation revealed severe bilateral sensorineural hearing (mean 73 dB HL). Bilateral type As tympanogram was recorded (right ear: 0.27 mL; left ear: 0.18 mL). Stapedial reflex was absent at high frequencies. DPOAE testing revealed sporadic bilateral cochlear responses. Speech audiometry showed reduced speech comprehension. Endoscopic examinations revealed edema of both vocal folds mucosa, preserved mobility. GRBAS scale showed G2R1B3A3S0. Acoustic analysis demonstrated slight reduction in fundamental frequency (F0) and elevated shimmer (10.566%). MPT was slightly shortened to 20 s. Speech evaluation revealed mouth breathing, shortened expiratory phase during phonation, bradylalia, articulation disorders with prolonged pauses between words, high-arched soft palate, shortened lingual frenulum, open bite, reduced tone of facial, lip, and tongue muscles. Conclusion: Genetic testing confirmed the presence of facio-scapulo-humeral muscular dystrophy (FSHD). Bilateral severe sensorineural hearing loss was documented. Speech disorders in FSHD were associated with reduced tension of articulatory muscles.
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