Causes and Symptoms of Friedreich’s Ataxia
Friedreich’s Ataxia is a neuro-muscular disorder. It is a life shortening genetic disease and is also called familial ataxia. It is also known as autosomal recessive disease.
This disease cause progressive damage to the nervous system and it results in a number of problems like heart disease, muscle weakness, speech problem etc. In this disease the nerve tissues present with in the spinal cord and nerve cells that controls muscle movements gets damaged and degenerates.
Due to this disease the nerve cells lose most of their myelin sheath and become thinner. This results in reduced conductivity of nerve impulse through the nerves and this causes the disease.
Causes of Friedreich’s Ataxia
Friedreich’s Ataxia is caused by a defective gene called X25 that is present with in the ninth chromosome. A person gets this defective gene from his parents who already have the defective gene.
Hence it is an inherited disease. Defective X25 gene produce less protein and the lack of this protein called frataxin in the body causes the degeneration of spinal cord and its connections in the brain. This is because frataxin has an important role in the functioning of mitochondria which are the energy producing sites of a cell.
Frataxin makes the movement of iron and also aids in the development of iron sulfur cluster. These iron sulfur clusters plays a major role in the functioning of mitochondria and energy production.
Symptoms of Friedreich’s Ataxia
The person subjected to this disease suffers from lack of coordination between different parts of the body especially in the legs and arms. At times feet may become deformed and rigid. Energy deprivation causes fatigue and it also leads to the loss of muscle strength.
It may also affect the vision and hearing ability. The speech may become slurred and there may be problem in swallowing food. There may be an abnormal curvature of the spinal cord. The patient may have an enlarged heart which is a very serious heart condition. Many of these patients are also subjected to diabetes mellitus.
If you have a family history of this disease then it will be better to undergo a complete neurological evaluation. This will help you to control the various symptoms of this disease from its early stage itself even though it is a non curable disease.
