Cheri, Thank you for mentioning Joseph-Machado disease and its concentration on Flores. I read about the symptoms on the internet and I believe that my grandmother had Joseph-Macado, although she just called it ataxia. I'm thinking that her father (born on Flores, Azores) had it also as his legs went out in his 80's and then he was bedridden. My grandmother used to go walking in the neighborhood for exercise, but when she was in her 80's people starting calling the police thinking that she was drunk, who then called my father (a civic leader in town). Several of these calls and my father convinced her to walk only within her retirement complex. Interesting that my great grandmother (maiden name: Freitas) also born on Flores, did not have ataxia. Of their three children, my grandmother was the only one to have ataxia. From reading online, there is also a presence of Joseph-Machado on São Miguel island. There is no cure for Joseph-Machado disease, but symptoms can be treated. But DNA testing is available to see if you have the markers for Joseph-Machado Disease (The genetic test for MJD (SCA3) is highly accurate. Those individuals who are at risk for MJD (i.e. have an affected parent) but do not have any symptoms can undergo presymptomatic testing to determine whether they carry the disease allele (and thus will later develop the disease). Obtaining presymptomatic testing is a highly personal decision that at-risk individuals should make only after fully considering the potential pros and cons.) National Ataxia Foundation (NAF) 2600 Fernbrook Lane North Suite 119 Minneapolis, MN 55447-4752 [email protected] http://www.ataxia.org Tel: 763-553-0020 Fax: 763-553-0167 http://www.ninds.nih.gov/disorders/machado_joseph/detail_machado_joseph.htm
Debbie Wolgemuth Researching Azoreans: Jorge (Flores), Freitas (Flores), Enos (San Miguel), Silveira Matos (Faial), Rodrigues (unknown) Immigrated to: Merced, CA From: [email protected] Date: Sun, 16 Sep 2012 01:46:11 -0700 Subject: Re: [AZORES-Genealogy] Re: Writing the family history To: [email protected] I think diabetes is much higher than Joseph-Machado disease. I think Joseph-Machado an autoimmune disease. It's more concentrated possibly on Flores, but less that 1%. That I know. I remember taking a genetics class in college and I chose diabetes and it was higher in certain populations (including Portuguese). It's been so long ago that I don't remember the source though. I'm sure there probably a couple of other diseases too. The Azoreans (and probably Madeirans and Cape Verdeans) probably have some that are somewhat inbred due to the intermarriage since we are all come from isolated islands. Cheri Mello Listowner, Azores-Gen Researching: Vila Franca, Ponta Garca, Ribeira Quente, Ribeira das Tainhas, Achada -- To unsubscribe from this group, send email to [email protected]. Follow the confirmation directions when they arrive. For more options, such as changing to List, Digest, Abridged, or No Mail (vacation) mode, log into your Google account and visit this group at http://groups.google.com/group/Azores. Click in the blue area on the right that says "Join this group" and it will take you to "Edit my membership." -- To unsubscribe from this group, send email to [email protected]. Follow the confirmation directions when they arrive. For more options, such as changing to List, Digest, Abridged, or No Mail (vacation) mode, log into your Google account and visit this group at http://groups.google.com/group/Azores. Click in the blue area on the right that says "Join this group" and it will take you to "Edit my membership."
