David Stanton
Question:693. Deputy David Stanton asked the Minister for Health the way Ehler's Danlos syndrome is diagnosed and classified here; the incidence rate here; and if he will make a statement on the matter. [25918/13]
View answerTuesday, 28 May 2013
Questions (693)
Written answers
Ehler's Danlos syndrome is an inherited connective tissue disorder which effectives the joints, skin and blood vessels. It causes joints to be flexible and unstable, skin that tears easily and fragile blood vessels. There are a number of genetic mutations that give rise to the condition. Incidence data for Ireland is not available however international evidence for some of the gene mutations indicates incidence rates from between 1 in 10,000 to 1 in 250,000 people. Diagnostic tests typically include genetic testing, skin biopsies, cardiac evaluation and other biochemical tests. The treatments are mainly palliative to reduce the complications from the condition. These include both medical treatments and sometimes surgery for joint instability. My Department is developing a rare disease plan which will be finalised later this year and deals with the diagnosis, management and information relating to rare diseases.
Question No. 694 answered with Question No. 614.