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Inherited Disorders and Birth Defects

More information on Federick Ataxia

09/25/2006

Question:

I recently met someone who has Federick Ataxia and I really like him. I want to know more information on it, just to see what can I do to help him, and is there anything he can take to help his immune system?

Also, if God willing we got serious, will this effect his sexual performance?

Answer:

Friedreich ataxia (FRDA) is a slowly progressive ataxia (a loss of balance and problems coordinating movement of legs and walking) that usually starts in the mid teens and usually before the age of 25 years. People with FRDA usually have absent reflexes in the legs, dysarthria – trouble swallowing or problems with speech, a loss of sensation in the lower legs and muscle weakness. People with FRDA can also have scoliosis (curvature of the spine), pes cavus (the breast bone sunken in), heart problems and glucose intolerance, or diabetes

It is caused by a mutation (change) in a gene that is on chromosome 9. It is inherited in an autosomal recessive manner – that is both parents are carriers for the gene and have a 25% chance of both passing the mutated gene on at the same time and having an affected child. For a couple where only one of the parents is affected, they will not have any affected children unless the other person is also a carrier for the disorder.

I cannot answer your question regarding management of the disorder or sexual performance. I would recommend that you both talk to a neurologist that could answer all of your questions. I would also recommend that you talk to a geneticist or genetic counselor about the risks to have children with FRDA. You can locate a genetics center through the National Society of Genetic Counselors website listed below.

I am also forwarding your question to a NetWellness expert that may be able to answer your questions about management. In a few days, please look for an answer to your question in the NetWellness Expert topic area called Parkinson’s Disease.

Related Resources:

National Society of Genetic Counselors Resource Center

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University