Attention French-Canadian Descendants: Did You Inherit Oculopharyngeal Muscular Dystrophy?

Not only do genealogists have the opportunity to learn about their ancestors, but they can also learn about various inherited diseases. Some of these medical conditions could be life-threatening while others are merely an inconvenience. By studying inherited diseases floating around in your family, you may save or prolong your own life or the lives of your loved ones. By identifying the risks early in a person’s life, medical treatment often can be much more effective than the limited choices available after the medical condition becomes obvious.

I find it interesting that one French-Canadian couple in the 1600s who are the ancestors of millions of living people have tentatively been identified as carriers of a common form of muscular dystrophy. It became more than “interesting,” however, when I recognized the names of this couple as my ninth great-grandparents. Suddenly it wasn’t just “interesting;” it was personal!

If you have French-Canadian ancestry, now is the time to check your pedigree charts.

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 of Oculopharyngeal Muscular Dystrophy (OPMD).

NOTE: Saincte Dupont’s first name has been spelled in many different ways. I have seen it listed as Saincte or Sainte or Xainte or Zainte Dupont. Zacharie’s name also is sometimes listed as Zacarie Cloustier. Succeeding generations have spelled the surname in many different ways and have sometimes Anglicized it as well. Zacharie Cloutier’s male descendants have spelled their last names as Cary, Cluchier, Clukey, Clurkey, Cluquet, Clouter, Lapensee, Nailer, and probably other ways as well.

Zacharie Cloutier and Saincte Dupont were married in St-Jean de Mortagne, ev. Sees, Perche, France, on 18 July 1616. They set sail from the port of Dieppe in mid-April 1634, accompanied by his family. The fleet consisted of four ships under the command of Duplessis-Bochard, arriving in Québec on June 4, 1634. Zacharie Cloutier was a master carpenter and is known to have helped build the manor house of Robert Giffard at Beauport, Québec. He also worked on the parish church and on Fort Saint-Louis in Québec. We can guess that he also helped build many of the houses of that settlement.

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. They appear to be the only couple that is always found amongst the ancestors of every French-Canadian sufferer of OPMD. However, there’s also a high incidence of OPMD among Hispanic residents of northern New Mexico. OPMD can also affect people who aren’t of French-Canadian or Hispanic background although that is far less common.

If you have difficulty swallowing or if you have droopy eyelids, check your pedigree chart. If you find Zacharie Cloutier and Saincte Dupont in the family tree, you might want to mention that fact to your doctor.

For more information about OPMD, look at,, and at

By the way, most French-Canadians with ancestry in the greater Quebec City area can find Zacharie Cloutier and Saincte Dupont in multiple places in their pedigree charts. That is, most of these people have multiple lines of descent from this one couple.


Yvette (Blanchard) Hoogstad October 4, 2014 at 2:24 am

Thanks for the info! Good to know, as I am descended from three of their children! Combine that with my Southern, Colonial New England, and gateway ancestors and I’m a disease waiting to happen 😉


I found this out some time ago. They are in my family line. I have 2 sisters that have the drooping eyelid. And all 3 of us often choke on small pieces of food…mind that is probably because we never stop talking.
Doctors for the most part ignore the information if you give it to them as it is pretty obscure.


You make it sound like the symptoms are a minor inconvenience. Many OPMD victims have great swallowing difficulties (uncurable) and must have eyelid surgery every few years to see. My brother, sister, and I all have OPMD, and our father died from it. Unfortunately, outside of New England and New Mexico, few American doctors are even aware of it, show little intererest, and often offer conunterproductive advice.


    My intention was not to minimize the problems of this disease. I am sorry if I offended you. However in our family, luckily it is a minor inconvenience.
    We do agree on the attitude of the doctors but I also understand that since the huge growth of the information highway on the internet they are inundated with people on a daily basis who have already gone online and diagnosed themselves. Often these people are correct but more often they are not.
    Education for the medical community is the best solution in cases like this. I am sure there are many others who would benefit from this knowledge and save them from being misdiagnosed.


    Just another note. We cannot find any ancestors from French-Canada or New Mexico. Our line is mostly Maryland-Pennsylvania-Ohio, so that adds to the enigma.
    If you have OPMD and need eyelid surgery, do some research–some methods are much more effective with OPMD sufferers.


    Agree. My family is officially diagnosed through genetic testing. The swallowing issues are terrible as the eye issues are. My father can no longer walk due to the proximal weakness in the hips and shoulder area(also a symptom). My uncle died as a result. The symptoms vary in severity and can be terrible sometimes. We are lucky in that our city has a neurologist who is also the chair of the local MDA chapter and immediately sent my brother for testing when he came to him with the symptoms and family history.


Thanks for the info, Very interesting! Zacharie is my 9th great grand father 5 times and once 10th. But as far as I know, no one on my father’s side has got the disease, and we are a very big family.
Now I’m a descendent of Jean Cloutier 3 times, Marie-Louise Twice and Zacharie once. I wonder if we can narrow the line further, the couple did have 12 children.


In my family we have a cluster of southern women who had/have MS. We have identified 6 women in the last two generations. Does anyone reading this comment have clusters of MS in their families?


My Norwegian family also has a history of OPMD. Clusters of people in western Norway are found to have it. In America, all those diagnosed with OPMD descend from Sofie Sivertsdatter Bentsen (1878-1966) from Nordland who settled in Redstone, Montana. OPMD causes severe swallowing problems and inability to open one’s eyes. Sufferers often end up needing a feeding tube. It can also affect the gait by causing limb weakness.


Thank you for posting. I found it very interesting as I am scheduled in two weeks for surgery to cut out some of the muscles in my droopy eyelids. Last year the surgeon cut out skin from my eyelids, but that did not work.


Sorry, I forgot to mention Zacharie Cloutier is my 10th great grandfather by his son Charles.


    Hello David Curtis. My name is Chad St. Pierre. I am also a descendant of Zacharie Cloutier as well I think that this is a good way of letting us descendants of this couple on what diseases we could inherit from our ancestors. Also my 8th great grandfather Pierre de St-Pierre worked for Charles Cloutier as an indentured servant when he first arrived to Quebec from France in 1664. Also I may have found Charles in my family tree but I do know that I am a descendant of Zacharie through most of his children and if I am right by being descended by Charles that would mean I am pretty much am descended by all 5 of Zacharie’s children who lived into adulthood. Because I’m descended his two sons Jean and Zacharie Junior and also descended by his two daughters Louise and Anne. So if I am right about being descended by Charles that would mean I got all 5 of their children inside me that had lived into adulthood since their daughter Xainte died in France at the age of 9 almost 10 years old.


Actually, OPMD has little or nothing to do with Zacharie Cloutier Sr. The disease is carried by Zacharie Cloutier Jr.’s wife, M-Madeleine Emard; Guillaume Couture Jr.’s wife, Anne Emard; and Oliver Tardif’s wife, Barbe Emard. The three sisters are the genetic carriers of the disease according to a study by André Barbeau


    Major sections of this article appeared verbatim seven years ago in a bulletin of the American-French Genealogical Society (AFGS), the AFGnewS, Volume XVIII, No. 5, November-December 2007. The introduction made an uncertain reference to its origin, “perhaps Dick Eastman’s list but that is just a guess.”

    According to the next AFGnewS, Volume XiX, No. 1, January-February 2008, there had been a correction which also appeared in Dick Eastman’s blog. It referred to: But I cannot retrieve that page.

    Pauline on October 6th identified the three sisters who were the original genetic carriers of the disease among the French Canadians, but misidentified the author of the study.

    Quoting from AFGnewS: “The research done in the 1960s by Dr Andre Barbeau falsely blamed the disease on Zacharie Cloutier and Sainte Dupont. It is only in the 1990s that using the PRDH data base the genealogical work was done correctly to show that the disease was actually introduced by three sisters (Barbe, Marie Madeleine and Anne Emard), one of whom had wed a son of Zacharie Cloutier. See: [post by Bertrand Desjardins]”

    To clarify the players, Dr. André Barbeau was a renowned neurologist (1931 – 1986). Note that Dick Eastman’s article tied the OPMD disease “tentatively” to Zacharie Cloutier and Sainte Dupont based on Dr. Barbeau’s work. Bertrand Desjardins who took over from the founders of the PRDH (Programme de recherche en démographie historique) is now retired. He directed the work that provides the corrected genealogy.

    At the 1998-1999 “umontreal” forum mentioned above, there is an article by Bernard Brais “L'”effet fondateur” québécois au service de la génétique.” It clearly attributes the ascendant genealogy of 33 individuals with the disease to “one French couple, three of whose daughters came here in 1648.” The article does not give their names. However, the post mentioned above by Bertrand Desjardins does not appear on the webpage.


    To further clarify Dr. Barbeau’s role in identifying the founder effect of the disease, I have excerpted part of a well-cited article written by Muriel Normand and published in the American-Canadian Genealogist, Vol. 34, Issue 116/117 2008 that states:
    “Dr. André Barbeau’s name is to this day associated with OPMD in Quebec where the disease is often called maladie de Barbeau. He conducted a series of genealogical, genetic and clinical studies most intensively from 1964-1966. By 1966, Barbeau had reviewed 50 personal and an equal number of previously documented cases. Working with the Institut Généalogique Drouin in Montreal, Barbeau placed the cases in a large family tree. The results indicated that Zacharie Cloutier and Xainte Dupont were the common ancestors and they were formally identified as such in the first few publications.
    The oldest son of this ancestral couple, Zacharie Jr. returned to France and married Madeleine Aymard (Emard) in 1648 and they returned to Quebec. BARBEAU HAD SECOND THOUGHTS [my emphasis – pdc], as his personal records suggest, and with the limited number of families studied in 1966, hypothesized that this couple [Zacharie Jr. & Madelein Emard] could be responsible for the ‘founder effect’ of OPMD as Madeleine’s parents, Jean Aymard and Marie Bineau were also mentioned as possible founders in his research.
    >>>Barbeau traveled to France in 1965 in hopes of finding a probable link. He found none in Mortagne, Perche the ancestral home of the Cloutiers, however three doctors in Niort, Poitou mentioned a single unmarried man who suffered from late onset ptosis [drooping eyelids] and who died circa 1941. It is not known for certain if he had dysphagia [difficulty swallowing], but in his last few years he had wasted away considerably. His last name was Bineau; the same as Madeleine Aymard’s mother and Niort was the Emard/Bineau ancestral home. The last genealogical tree of Barbeau on the large OPMD French-Canadian kindred was completed in 1967. The central ancestor couple is Jean Aymard (Emard) and Marie Bineau from Niort in France.”
    Barbeau appears to have arrived at the founder couple for French-Canadians some 25 years before the PRDH but that is not to say they were not instrumental in completing the genealogical work on identifying the descendants of Madeleine and her two sisters as well. A monumental task for sure.


    Thank you Pauline for filling in the details of Dr. Bardeau’s work so as to give him full credit for his evolving research. Through the years since the 1960s, any tentative mention of Zacharie Cloutier and Sainte Dupont in the OPMD context is easily interpreted as fact and must be corrected. This couple has many descendants whose genealogy does not involve the Emard sisters. We must give the University of Montreal full credit with the PRDH for completing and confirming the Emard family involvement.

    I finally retrieved a copy of Dick Eastman’s 2007 article from my own archive:

    I cannot retrieve it online (another reminder that whatever is on the Internet is perishable). It appeared with an October 25, 2007 date. My copy includes comments through May 25, 2010. The first comment was by Bertrand Desjardins. It clarifies my quote from AFGnewS as follows:

    “Hi Dick, Unfortunately, your text perpetuates a mistake dating back to the 1960s when the links between genealogy and the transmitting of specific diseases were not as well understood as today. The research done in the 1960’s by Dr Andre Barbeau falsely blamed the disease on Zacharie Cloutier and Sainte Dupont. It is only in the 1990s that using the PRDH data base the genealogical work was done correctly to show that the disease was actually introduced by three sisters (Barbe, Marie Madeleine and Anne Emard), one of which had wed a son of Zacharie Cloutier. See:

    Posted by: Bertrand Desjardins | October 26, 2007 at 08:40 AM”

    Note that Bertrand Desjardins omitted mention of Dr. Bardeau’s later work. A Q&A ensued as follows:


    So it would appear then, that the disease would actually have come from Jean Emard & Marie Bineau, parents of the Emard sisters in France, and introduced to New France by the sisters through their marriages: Barbe m (1) Gilles MICHEL c.1640 and m (2) Olivier LeTardif 1648; Marie-Madeleine m Zacharie Cloutier (fils) 1648; and Anne m Guillaume (William) Couture 1649. Would that be correct?

    Posted by: Al Trudeau | October 26, 2007 at 12:29 PM”

    “To Al Trudeau:

    Yes sir, you are correct.

    Posted by: Bertrand Desjardins | October 29, 2007 at 09:01 AM”


A 1997 study from Israel showed the second largest cluster of known individuals with OPMD are of Bukhara Jews from Uzbekistan. Bukharan Jews are originally Persian.


Additionally, the incidence of OPMD is: French-Canadians (1:1,000), for
Bukhara Jews in Israel (1:600). OPMD is caused by two distinct founder GCG9 mutations in these 2 populations. Many northern New Mexican Hispanics are of Jewish ancestry as confirmed historically, genealogically and via DNA. The NM Hispanics mutation is GCG9. As stated in the comment above, The Bukharan Jews are originally from Persia (Jews have been there for 2,700 years since the Babylonian Exile) in the 1600s, while some families believe they came from Spain or direct from other exiles from the Land of Israel. Therefore the mutation could be from before Jews were exiled and before the split into Ashkenazi and Sephardic.


For more, I wrote about OPMD at Tracing the Tribe – The Jewish Genealogy Blog and the incidence in New Mexico among Hispanics of Jewish ancestry:, which was based on a 2004 New York Times article. There are interesting comments on the post from people in NM. And according to another study by the NCBI: “This disease is the most common form of ethnic-related familial degenerative myopathy in Israel, with a prevalence of 1:1500 in the Jewish-Persian community.” In a 2013 study written up in the IMAJ, the authors state: “(GCN)13 is the most frequent OPMD-producing
mutation worldwide and is shared by the three largest patient
clusters: French Canadians, Uzbek (Bukhara) Jews, and
Hispanic New Mexicans [2,3,7].” According to the late Dr. David Rimoin of the Cedar-Sinai Medical Center Medical Genetics Institute, who was responsible for the Persian Jewish screening program, “Hereditary Inclusion Body Myopathy is a progressive muscle disease characterized by muscle weakness developing in adults and is known as type IBM2 (autosomal recessive) in Persian Jews.” The incidence is 1:20 Persian Jews are carriers. The Jewish connection among the northern NM Hispanics of Jewish ancestry, the Persian Jews and the Bukharan Jews is interesting. I would also add that it is known that Jews from Spain did settle in France, that many Huguenot (French Protestant) families are known to be of Jewish ancestry, and it is of course possible that these Spanish Sephardim from Spain were also part of the French Catholic community at some time. What it means is that all of us really need to be aware of who we are, where we come from and to approach this with an open mind.


First off I am extremely new to genealogy, but I have a pretty good maternal lineage. I’m French Canadian on both maternal and paternal sides.
From my paternal side we have genetic “dark circles”. They have been nicknamed “The Trahan Circles”. Also on paternal side we are all darker hair and complexion.
Maternal side I have much more info and I’m not sure if this is relavant. My middle daughter does have the condition although we have opted not to have surgery to fix her eyelid. It hasn’t caused any issues and also is actually beautiful on her. My maternal grandmother suffered from Bell Palsey, which I also did too! Mine went away after about 3 months. I also suffer from a heart condition that is now being studied.
Any advice is much appreciated.


    Under the umbrella of DIck’s first paragraph, and possibly related to Claudette’s mention of a heart condition, is extremely high cholesterol. In my home town in the State of Maine, this is known as a problem with some French-Canadians. My sister has it, although attended by unusually high HDL which, in her case, provides for a favorable HDL/LDL ratio.

    I did a Google search on three words using quotes: “French Canadians” cholesterol. The first hit was an article by the National Institutes of Health which identifies French Canadians as one of a few populations where familial hypercholesterolemia, or FH, occurs.

    The second hit was an article by CBCNEWS. It highlights the situation in the Lewiston-Auburn region of Maine and identifies two types of FH: heterozygous and the rarer, more serious homozygous. My sister, 50 miles away, appears to have the first type. High rates of FH are known in certain parts of northeast Quebec like Iles-de-la-Madeleine.

    Both the cholesterol and OPMD (or OMD) problems appear in a list of eleven inherited conditions out of at least two dozen that affect French Canadians at:

    In the areas of Quebec where the population is particularly affected by some of the inherited diseases, there are studies underway using genealogical and genetic findings together. Local academia and societies are involved.

    Al Poulin


    how old is your daughter? If she is not 40s or 50s in age, it is not OPMD


In regards to my heart condition it is actually not attitributed to high cholesterol. My cardiologist can not determine how or when it occurred. It is a left bundle branch block which is an arrhythmia issue. For many years I could feel the beat of my heart go from slow to racing, but for whatever reasons no Dr. investigated it and attributed it as anxiety. It was very bad one time and my physican ran an EKG which showed the problem. So I was misdiagnosed for many years. I have been told that if changes to the EKG continue that they will put a pacemaker in. It is extremely scary.


Hello! My mother was diagnosed with OPMD about 15 years ago she has had eye lid surgeries suffers server limb weakness, pain, and chokes on basically everything so she gets Pneumonia often. My grandfather died from this disease and my mother is 1 of 12 children 7 of which have it. There are about 300 1st, 2nd and 3rd cousins many of us showing symptoms now. We are all French Canadian. How do we get information on volunteering for studies? My family is actively searching for anything we can find to help fight this! I have started a Facebook page called OPMD Oculopharyngeal Muscular Dystrophy runs in my family. Please anyone that is interested in networking, passing information back and fourth and sharing your stories with others going through the same thing are welcome to join. Thank you for the information.


I am of east indian descent (northern India) and after my father showed symptoms and we saw some in photos of my grandfather, the family was genetically tested and positive for OPMD. The most likely long long ago connection is Bucharest Jews that moved throughout Asia. So as a result it is also running now in our family, who also lives in Canada (toronto) and we did not catch this until at least 100 cousins have been born. So OPMD is spreading among different ethnic groups now.


    so I guess what I am saying is that this disease is no longer isolated to certain descendants of just those French Canadians. In fact my cousins who may have it from the Indian side have already married some French Canadians and had children. In that case the OPMD is passing from the Indian side and not the French Canadian side.


    Nate, I am also of Indian descent (northern India, Punjab)! This disease runs in my family and has been diagnosed via genetic testing. I also have the same hypothesis that this results from some Bukharan Jew ancestry in my tree. I think many folks do not realize how ubiquitous this disease is, despite its rarity.


Nate, do you mean Bukharan (Uzbekistan) – not Bucharest (Romania)?


I’ll be giving a presentation on OPMD at a genealogy conference at McGill University in Montreal on June 19-21, 2015. It is the largest English language genealogical conference held in Quebec.
For further information and to register go to
My father, aunts and uncles, and grandfather all have OPMD. I’ve been tested and have it as well. I’ve started tracing the descendants of the Emard sisters to see where my paternal ancestral line links to theirs. Haven’t found it yet but when I’m done I’ll publish a book with all the descendants of Barbe, Anne, and Madeleine Emard with an index to help find which of their descendants link to your own family trees.


    Would it be possible to get a copy of your talk?


    I would really be interested in a copy of your talk as well. Where should families who think they have the gene get tested? I don’t know what my grandfather’s diagnosis was but he needed surgery for his droopy eyelids. My father has them too. I have trouble swallowing sometimes but I don’t know if it’s OPMD related. Our surname is Martell/Martel. We are trying to trace our line of Martel’s but haven’t succeeded yet. I can’t get over a wall.
    Thank you for your time.


Thank you so much for this info. I have French Canadian on my Father’s maternal side. I am also a descendant of Guilluame Couture and ms. Emard. I also recently had my DNA tested and was shocked to find I tested 4% Jewish. I certainly did not expect that, but I have found this article both insightful and personally helpful, and not just in my quest to understand who my ancestors were, but to understand the medical health that has been passed down to me and my family.


Michelle Bernard May 27, 2015 at 2:04 pm

My father passed away from OPMD. We had no idea he had it until near his end. I was told I need to be tested. I do believe this runs on my dad’s father side but we do not know who they are as my grandmother married another man who adopted my father. All I know is the last name for them was Brisbeau, spelling could be way off on the last name. And they resided in Manitoba Canada. Hopefully they come across these forums as I am sure that his siblings on his father’s side must have OPMD. and may not even know it.


Andrea and others – there is a great Facebook page for those of us that have OPMD. We share our stories, medical processes, questions, and ideas. The FB page is called OPMD Oculopharyngeal Muscular Dystrophy runs in my family. I would strongly suggest to join!


Thank you for this article and all your research. After years of being suspected of having this disease, I was diagnosed today. I had not done my own research since it was first brought up to me a decade ago. I came home and found that there is much more known about it now. I already had done my ancestral line. Guess who I am an ancestor of? This is not a disease to take lightly. I suffer the joint issues and have frequent esophageal dilation. I cannot eat solid food or drink water. Again, thank you for your research. It has given me a quick answer to my Physician’s question as to my ancestral line.
Jennie-Ann Pelletier Guite


Hi , I am 25% French Canadian, on both sides. Will have to check my tree to look for those names to see if I am related. I have these symptoms now, for 2 years, and am in my early 40’s. Could you please tell me the gene(s) responsible, along with the snp(s) and associated risk alleles? I have my raw genetic data and want to look it up. I have been thinking I might have Myasthenia Gravis, but maybe it’s this??


    A G, the following information may answer your question. If you still have questions after going through the material, please get back in touch. My acquaintance offers to try answering them.

    In a retirement community where I now live is a descendant of French Canadians who has OPMD. He uses an electric wheelchair and said that he is the oldest survivor of OPMD. For a start, he gave me this website at The U.S. National Library of Medicine:

    It refers to mutations in the PABPN1 gene and includes a link to this page:

    The location of the gene PABPN1 is 14q11.2, the long (q) arm of chromosome 14 at position 11.2, and, more precisely, from base pair 23,320,188 to base pair 23,326,185 on chromosome 14.

    Another link to Gene Reviews discusses alleles.

    In the pages cited above, I saw no references to snp(s), but a Google search on “snp(s) in PABPN1 genetics” yields various articles.

    Al Poulin


Hi All, The Facebook page has become very active. If you have OPMD please come join us and find others with OPMD. We need you! OPMD Oculopharyngeal Muscular Dystrophy runs in my family As far a genealogy, I’m stuck at Sophie Plourde (OPMD) in Maine as her parents are Canada born, Pierre & Marie (Boutot) Plourde but I can’t find link to Emard…yet.


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