Detailed Information on Moebius syndrome
Posted on October 26, 2008 - Filed Under Uncategorized | 1 Comment
Moebius syndrome is thought to be genetic, and most cases are sporadic, occurring once in a family. The recurrence risk is thought to be extremely low, and one source has quoted it to be 2%.
Moebius Syndrome is an extremely rare condition which typically affects the sixth and seventh cranial nerves. These nerves affect the face and eye muscles. Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th. There may be skeletal involvement causing hand/feet anomalies and/or club feet. Limb and chest wall abnormalities sometimes occur with the syndrome. Most people with Möbius syndrome are born with complete facial paralysis, which means they cannot close their eyes or form facial expression. The first symptom of Moebius syndrome, baby may also have difficulty sucking.
Galactosemia Detailed Information
Posted on October 6, 2008 - Filed Under Health | Leave a Comment
Galactosemia is also very common in the Irish Traveller population. This is attributed to consanguinity within a relatively small gene pool.
Galactosemia is the lack of ability of the body to employ (metabolize) the simple sugar galactose, causing the buildup of galactose 1-phosphate in the body. It arises in about 1 out of every 60,000 births among Caucasians, while the rate is dissimilar for other groups. There are three forms of the disease include galactose-1 phosphate uridyl transferase lack (classic galactosemia, the most common and most severe form), deficiency of galactose kinase, and deficiency of galactose-6-phosphate epimerase. People with galactosemia are unable to completely break down the simple sugar galactose.
