Wednesday, July 26, 2017

Hey Cousins I Have Some Good News & Bad News


The bad news first... 

Some of us inherited a genetic defect from my 10th great-grandparents.

Zacharie Cloutier and Saincte (also Sainte or Xainte or Zainte) Dupont my 10th great-grandparents, who emigrated to Canada from France in 1634, may have harbored the genetic defect responsible for the majority of today’s French-Canadian (and American) cases of Oculopharyngeal Muscular Dystrophy (OPMD).

Oculopharyngeal Muscular Dystrophy is best known for a weakness of the muscles that control the eyelids, causing droopy eyelids, a condition also known as ptosis. However, that is not the only symptom. The disease often causes a weakness of the facial muscles and pharyngeal muscles (those in the throat used for swallowing), a condition known as dysphagia. Weakness of facial and limb muscles often occurs later. Symptoms of the disease usually don’t begin until the mid 40s or 50s, but can occur earlier.

A person with OPMD might have some of the symptoms, but not all. While the disease is best known for the droopy eyelids that severely narrow the field of vision, another person with the same disease might not display that symptom at all. However, a difficulty in swallowing is also quite common, even if it is not visible to others.

When muscle tissue from a person with OPMD is examined under a high-powered microscope, clumps of proteins called inclusions are seen in the muscle cell nuclei (the cellular compartments that contain the chromosomes), and bubble-like structures (vacuoles) appear in the muscle cells.

Oculopharyngeal Muscular Dystrophy is most common in French-Canadian families or families of French-Canadian descent. When the French-Canadian victims’ family trees are traced, Zacharie Cloutier and Saincte Dupont always appear someplace in the pedigree charts, often in more than one place.

My opthamologist repaired my droopy eyelids in 2007, and has been after me to have my droopy eyebrows repaired.

Source: Attention French-Canadian Descendants: Did You Inherit Oculopharyngeal Muscular Dystrophy? by Dick Eastman, October 3, 2014.


Now for the good news... 

We are distant cousins to some pretty interesting folks who are also descended from Zacharie Cloutier.  


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