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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