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57 year old woman who complains "The lids are somewhat down"
Digital Journal of Ophthalmology 1997
Volume 3, Number 12
February 4, 1997
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Melanie Ryan-Graham, MD | Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA
Diagnosis and Discussion
Oculopharyngeal Dystrophy

Given the classic presentation of a French-Canadian woman with acquired bilateral ptosis, good extraocular motility, dysphagia with consequent aspiration pneumonia, mild lower facial muscle weakness, and a family history of ptosis, in the absence of pigmentary retinopathy, cataracts, and other systemic findings, the patient was diagnosed with oculopharyngeal dystrophy. She has been referred to an ENT specialist for dysphagia evaluation, and is being evaluated for ptosis repair.

Oculopharyngeal dystrophy was first described by Taylor in 1915 in a Boston family of French-Canadian descent. He described the syndrome as a progressive swallowing disorder with ptosis that eventually caused death by starvation. Victor named the syndrome "oculopharyngeal dystrophy" in 1962, although in Quebec it is known as "Barbeau's disease", named after Barbeau who published a report in1966 that traced the syndrome to a single couple that migrated in 1634 FROM France to Quebec and settled in the counties of LÕIslet and Montmagny along the St. Lawrence River. Over a hundred cases have been traced to this couple. Barbeau established the autosomal dominant inheritance of most cases, although there have been occasional autosomal recessive and sporadic cases reported. The syndrome is more common in persons of French-Canadian descent and has a high prevalence in Quebec, but has been reported in 20 other countries.

Generally, the syndrome presents with dysphagia that is followed by ptosis within a few years. Both liquids and solids may be difficult to swallow, and there is a tendency to aspiration. On examination, it is noted that the pharyngeal musculature is weak and uncoordinated, and that the cricopharyngeal muscle has abnormal reflex relaxation. There is indeed an associated weight loss with the progression of the dysphagia. Also, the altered pharyngeal and laryngeal musculature can cause a palatal voice.

The ptosis is generally bilateral and symmetric. In addition, there may be ophthalmoparesis, but generally of only mild degree. There may also be mild weakness in facial, neck flexor, and proximal limb muscles.

The etiology of the disease is unknown. Originally Taylor described it as the neurogenic disorder "progressive vagus-glossopharyngeal paralysis with ptosis". Victor in 1962 reported that there was evidence of a muscular dystrophy. Currently, most investigators suspect that it is a primary myopathy, although some still favor a neurogenic etiology. It is difficult to sort because EMG and pathologic studies of chronic denervation and myopathy can be similar. On pathologic examination, the skeletal muscle fibers are of decreased size and with fibrosis. Tubulofilamentous intranuclear inclusions of characteristic size and location described by TomŽ and colleagues can be detected by electron microscopy of skeletal muscle biopsies. These are pathognomonic of the disease although not present in all muslce fibers. Mitochondrial abnormalities have been noted, but are not specific and are not thought to be the primary disorder.

Management includes careful medical and family history, complete examination, and ENT referral. A Tensilon test should also be considered. Careful family history taking is helpful both for providing a basis for genetic counseling and for helping predict the patient's future course which is often similar to relatives. ENT evaluation is essential for the evaluation and management of dysphagia. The surgical treatment of the dysphagia consists of inferior constrictor myotomy. Before ptosis surgery is undertaken, careful documentation of good Bell's phenomenon, orbicularis function, and corneal sensation should be done. A study by Molgat and colleagues reports impressive success in levator resection for the surgical correction of ptosis due to oculopharyngeal muscular dystrophy.

In summary, oculopharyngeal muscular dystrophy is a disease that is commonly found among those of French-Canadian descent, generally has an autosomal dominant inheritance, is characterized by ptosis and dysphagia, has a high risk of aspiration pneumonia and starvation, and is often amenable to surgical correction of the dysphagia via inferior constrictor myotomy, and of the ptosis by levator resection.
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