OMPD, from Barbara (McElhiney) Clauson
Sep 14, 2006: From Barbara (McElhiney) Clauson to a number of her Chatfield cousins:
I am forwarding information about our hereditary problems with eyelids (ptosis) and swallowing (dysphagia) (and also a constant clearing of throat). I hope you do not have any of the symptoms.
It is called: Oculolpharyngeal Muscular Dystrophy (OPMD).
Age of onset is in 40s to 50s, progression, slow. Usually starts with drooping of the eyelids. This is followed by other signs of eye and facial muscle weakness, as well as by difficulty in swallowing. The later stages of this slowly progressive disease may include weakness in the pelvic and shoulder muscles. Swallowing problems can lead to choking and recurrent pneumonia. Surgery can be done to alleviate both the drooping eyelids and the swallowing difficulties. The disease is linked to a gene defect on chromosome 14. OPMD is inherited as a dominant disease.
The gene that’s defective was discovered in 1998, and is called the poly(A) binding protein 2 or called PABP2 gene. Researchers suspect that in OPMD, the presence of extra amino acids in the protein made from a defective PABP2 gene causes the PABP2 protein to clump together in the muscle cell nuclei, perhaps interfering with cell function.
Eventual weakness of the muscles in the face and limbs is common. Double vision and a “breathy” quality of the voice may also occur. There is no cure at present.
The disease is most common in families of French-Canadian descent. Research into the genealogy of these families has suggested that a single couple, Zacharie Cloutier and Saincte Dupont, who immigrated to Canada from France in 1634, may have harbored the genetic defect responsible for the majority of today’s French-Canadian cases.
In advanced cases of choking a non-surgical procedure called “throat stretching” or a surgical procedure called a cricopharyngeal myotomy may be warranted. Tube feeding is another option for advanced cases.
Eyelids can be operated on with a type of eyelid reduction surgery called a frontalis sling performed by an oculoplastic surgeon. I have had my throat stretched 3 times and my eyelids reduced, with the muscle that open and closes your eyelids stitched up, and I need to have this done again after 5½ years.
I hope you never need this info. I thought it was interesting stuff.
Hope all is well with you and yours.
Lovingly, Barbara Clauson
Note: Barbara (McElhiney) Clauson is the daughter of Nellie May (Chatfield) McElhiney, granddaughter of Charles H. Chatfield & Nellie Chamberlin, great-granddaughter of Isaac W. Chatfield & Eliza Harrington.