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Oculopharyngeal Muscular Dystrophy (OPMD)

Oculopharyngeal Muscular Dystrophy (OPMD)


Contact: Muscular Dystrophy Foundation Australia
Tel: 08 8234 5266
Email: http://mdaustralia.org.au/contact/
Website Click here
More info: 36-38 Henley Beach Rd
MILE END
SA 5031
About: Oculopharyngeal muscular dystrophy (OPMD) is characterized by weakness of the muscles that control the eyelids (leading to droopy eyelids, a condition also known as
ptosis), and by weakness of the facial muscles and pharyngeal muscles (those in the throat used for swallowing). It also affects limb muscles. Symptoms of the disease
usually don't begin until the mid 40s or 50s, but can occur earlier. OPMD is usually inherited as a dominant disease, but rare cases may show a
recessive pattern of inheritance. When muscle tissue from a person with OPMD is examined under the microscope, clumps of proteins called inclusions are seen in the
muscle cell nuclei (the cellular compartments that contain the chromosomes). The disease is most common in French-Canadian families or families of French Canadian
descent. Research into the genealogy of these families has suggested that a single couple, Zacharie Cloutier and Saincte Dupont, who emigrated to Canada from France in 1634, may have harbored the genetic defect responsible for the majority of today's French-Canadian cases. OPMD can also affect people who aren't of French Canadian
background.

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