Hello fritzfield,
RE:
Genetically transmitted fatal diseases amongst Quebecois
My ex-husband has OCMD (Oculopharyngeal Muscular Dystrophy), a genetic,
degenerative disease and I have researched the history of this disabling
illness. Oculopharyngeal muscular dystrophy is inherited in either an
autosomal dominant or an autosomal recessive manner. In Quebec it is
estimated that about one in 1000 people have the genetic mutation. (Dr.
Bernard Brais renowned researcher at Centre Hospitalier de l'Université de
Montréal). Although I am not sure it falls into "genetically transmitted
fatal diseases/syndromes" it is none the less a very debilitating illness.
The genetic defect is one of 9 types of muscular dystrophy. It usually
shows
up in the patient in his/her 40s or 50s. It causes devastating changes in
the muscles that control swallowing (difficulty swallowing and speech
impediment), the eyelids (leading to ptosis (droopy eyelids) and double
vision), and severe weakness of limb muscles. As with all muscular
dystrophies it can easily incapacitate its victims. Swallowing problems
often cause patients to aspirate food or liquid into the lungs leading to
pneumonia. The droopy eyelids can significantly impair vision and may lead
to social awkwardness. Weakness of limb muscles causes trouble when
walking
(shuffling of the feet). Some individuals eventually need a wheelchair.
Life
expectancy is not reduced. I am including a short article on the history
of
OPMD that may be interesting to anyone interested in this subject.
Hope this is what you are looking for,
Denyse
HISTORY OF OCULOPHARYNGEAL MUSCULAR DYSTROPHY
The earliest record of Oculopharyngeal Muscular Dystrophy in North America
has been traced to a 16th century French couple who immigrated to Quebec,
Canada. The c.1634 couple, ZACHARIE CLOUTIER and SAINCTE DUPONT had
three
daughters.
Since the genetic defect is passed to 50% of one's offspring, it is easy
to
see how fast the disease proliferated in a predominately Catholic
community.
It was common for families to have 12-18 children. If one family passed
the
gene to half of their (12-18) children then 6-9 would inherit OPMD, and if
each child had their own family of 12-18 children, the disease could
extrapolate from a range of a low of 36 children to the top range of 54
children. It's easy to see why there is a ratio of 1:1,000 with OPMD in
Canada and 1:100,000 in the USA.
The Canadian researcher, Dr. Andre Barbeau, (1931-1986), is known for his
work and contributions to Parkinson's disease, Huntington's chorea, and
Friedreich's ataxia. However, he was also well known in Quebec for his
series of genealogy, genetic, and clinical studies that demonstrated that
most cases could be traced to French-Canadian ancestors. Barbeau was the
first to see over 100 patients and, therefore, his clinical studies were
definitive. He also traced the original ancestor couple to a case in
NIORT,
France. Dr. Barbeau was well known in Quebec for his work on OPMD and
it's
often called "maladie de Barbeau".
Before 1998, the disease was determined by clinical examination or muscle
biopsy. Since then DNA testing is available and less invasive than a
biopsy.
(PubMed, National Library of Medicine, #1. Neuromucul (sic) Disord. 1997
Oct; 7 suppl 1:S5-11, "Andre Barbeau and the oculopharyngeal muscular
dystrophy in French Canada and North American", Bouchard JP)
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GEN-FR Digest, Vol 2, Issue 204
Today's Topics:
1. Genetically transmitted fatal diseases amongst Quebecois
(fritzfield)
----------------------------------------------------------------------
Message: 1
Date: Sun, 02 Dec 2007 18:44:09 -0500
From: fritzfield <fritzfield@[EMAIL PROTECTED]
>
Subject: Genetically transmitted fatal diseases amongst Quebecois
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Have any of you studied or seen re****ts of increased genetically
transmiited
fatal diseases/syndromes amongst the genetically distinct intermarrying
Quebecois society vis-a-vis that of similar groups, such as that
experienced
by small intermarrying groups such as Jewish people with, the most
prominent
example, Tay-Sachs Disease, or of Afrikaner society?
End of GEN-FR Digest, Vol 2, Issue 204
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