Oculopharyngeal muscular dystrophy: What's new?

Abstract

The authors place autosomal dominant oculopharyngeal muscular dystrophy in a historical perspective, look at the genealogy involved, and review the genetic studies. In addition to summarizing what happens at the histopathological level, they examine the clinical characteristics of this late-onset dystrophy. Based on this knowledge, they try to present their rationale for the surgical treatment of the eyelid ptosis, taking into account that this disease is progressive and that treatment should be planned for the lifetime of the patient. Three representative cases are illustrated.

Primary bilateral silicone frontalis suspension for good levator function ptosis in oculopharyngeal muscular dystrophy

“…Codere et al present their rationale for treatment of ptosis in OPMD, taking into account that the disease is progressive and that ‘treatment should be planned for the lifetime of the patient’ 25. They also note that when extensive levator resection is performed, lagophthalmos is often a problem.…”

Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy

“…Speech characteristics ranged from mild dysphonia and vocal fatigue to gross hypernasality and nearly unintelligible speech. Other case reports in the literature have mentioned weakness of facial muscles (Boukriche, Maisonobe, & Masson, 2002), dysphonia and tongue weakness (Codère, Brais, Rouleau, & Lafontaine, 2001), weak movements of the soft palate (Bilgen, Bilgen, & Sener, 2001), and nasal voice (Adamczyk & Oshinskie, 1987;Chang et al, 1993). Bouchard, Brais, Brunet, Gould, and Rouleau (1997) described a series of 72 French-Canadian individuals with OPMD.…”

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

“…Two types of operations are used to correct the ptosis with overall good results: resection of the levator palpebral aponeurosis and frontal suspension of the eyelids (Codère, 1993;Codère et al, 2001) Surgery is recommended when the ptosis interferes with vision or cervical pain appears secondary to the constant dorsiflexion of the neck. Surgical evaluation of symptomatic dysphagia should be prompted by severe dysphagia, marked weight loss, near-fatal choking, or recurrent pneumonia.…”