The Auditory, Vestibular, and Oculomotor System in Facioscapulohumeral Dystrophy

Abstract

Verhagen WIM, Huygcn PLM, Padberg GW. The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy. Acta Otolaryngol (Stockh) 1995; Suppl 520: 140.142.Auditory, vestibular and oculomotor function tests were performed in 14 FSHD patients (7 men, 7 women, aged 19 -74 years) with autosomal dominant facioscapulohumeral dystrophy (FSHD) due to chromosome 4q35 associated DNA rearrangements. (Cochlear) sensorineural hearing loss (SNHL) in excess of that expected for their age was found in 6 patients: in 3 at the higher frequencies and in 3 also at the lower (speech) frequencies. Brain-stem auditory evoked potentials were generally normal, Oculomotor l'un étions were normal. Four patients showed vestibular hyperre flexia, perhaps secondary to diminished head movements. Despite the apparent genetic homogeneity of the present patients, the above-mentioned (hidings showed significant associations with certain families, the cases of new mutations, or a certain generation. Therefore, FSHD in our patients demonstrated clinical heterogeneity.

Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

“…We focused on Ret signalling as a potential mediator of DUX4-induced muscle pathology for several reasons. FSHD is characterised by the often asymmetric wasting of facial, shoulder and upper arm muscles (Tawil, 2008), and can be associated with several non-muscle tissue pathologies including sensorineural hearing loss and retinal vasculopathies (Verhagen et al, 1995). Development of the auditory system, retinal patterning and facial muscles have been shown to depend on Ret signalling in a number of species.…”

Clinical Approach to the Diagnostic Evaluation of Hereditary and Acquired Neuromuscular Diseases

“…Several studies of later onset FSHD using audiometry have demonstrated hearing deficits in many later onset FSHD patients in addition to those with “Coates” syndrome, suggesting that impaired hearing function is more common than expected in FSH muscular dystrophy. 51,62,93 Thus, all patients with FSHD should have screening audiometry and ophthalmologic evaluation.…”

Chronic Pain in Neuromuscular Disease

“…5 The reasons these disease in particular have more pain are not clear but they involve membrane-related pathology, and both disorders have underlying genetic expansion-type mutations and are multisystem disorders. 40 …”