What sort of disorder is friedreich ataxia?

Friedrich's ataxia. FA is an inherited disorder that affects strength and coordination, among other things, and often interferes with walking. http://www.curefa.org/whatis.html.
Friedreich's Ataxia. Friedreich's ataxia is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent.

Related Questions

What is friedreich ataxia?

Nervous system prob. Its an inherited disease that causes damage to the nervous system which can cause many problems which include difficulty with walking, speaking, seeing and causes severe muscle weakness as well. Read more...
Friedrich's ataxia. FA is a condition that causes weakness, scoliosis, ataxia, visual impairment, heart disease and diabetes mellitus. It is an inherited condition that normally affects people as a child or as a young adult. http://www.curefa.org/whatis.html. Read more...

Can women with friedreich ataxia get pregnant?

Yes. Friedreich's ataxia (fa) is an inherited disease that damages the nervous system. Women with fa often have less severity than men with fa. Reproductive systems can function, but it is not recommended for a person with fa to have children because all their children would either have fa or be carriers for the disease, that is, have a copy of the abnormal gene which causes fa. Read more...

Does a normal frataxin test result rule out the possibility of friedreich ataxia. And does a normal result of a cat scan rule out cerebellar ataxia?

No and no. There are several forms of cerebellar ataxia. There are markers that have been found, but most cases are not diagnosed by the marker gene but by appropriate clinical evaluation. Early in the course ct and MRI may be normal. Read more...
No and No. The 'frataxin test' reveals the presence of repeat expansions in the frataxin gene which is detected in 96% of fa patients. The rest are due to point mutations uncovered by sequence analysis of the gene and is a separate test. Mri is better than ct to study the posterior fossa. Results depend on the type of cerebellar ataxia of which fa is only one. Read more...