Friedreich’s Ataxia(FA) is a genetic and neuromuscular disease that mainly affects the nervous system, hearts, certain bones and cell in the pancreas that produce insulin. This disease mainly effects on movement.
Expanded GAA trinucleotide repeat in the FXN gene is the cause of Friedreich’s Ataxia. FXN gene is located on chromosome 9 and responsible for making a protein called frataxin. People with this mutation is not able to produce enough protein.
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Mitochondria are known as the energy-producing center in our body cell. Many of the cells of the body need enough energy to function. Without enough of the protein frataxin, these cells do not work properly and start to break down. This leads to the symptoms of Friedreich’s ataxia.
People must inherit two faulty FXN genes to get Friedreich’s ataxia – one from their mother and one from their father. If any person has one faulty and one normal FXN gene than they are known as carriers.
Carriers of Friedreich ataxia will typically have no symptoms but can transfer the faulty gene to their children.
- If both parents are carriers than a 25% chance of the child have FA. Or there is also a 25% chance that their child will not be affected. Also a 50% chance they will also be a carrier.
- If one is the carrier and other has two normal FXN gene, 50% chance their child will not be affected. Rest 50% chance they will neither be a carrier nor have the condition
Symptoms Of Friedreich’s Ataxia:-
The gradual deterioration of the neurons in the cerebellum and spinal cord which produces electrical messages and passes through between neurons and on to the muscles leading to the poor coordination and movement is the cause of it.
- Abnormal changes in skin sensation, such as reduced ability to feel temperature, pressure or pain
- Lack of physical coordination – Coordination between the various parts of the functioning of the body.
- Unsteadiness on the feet – Feet are not steady for activities.
- Need to maintain balance by positioning the feet widely apart
- Muscle weakness as the condition gets worse
- Walking abnormalities
- Loss of balance – Loss of balance affects the coordination, blood pressure and interrelated activities of the body.
- Lack of tendon reflexes in the legs
- Movement of the arms, legs, and body like Jerky movements and lack of coordination ultimately involving.
- Speech difficulties, such as slurring
- Swallowing problems and the associated risk of choking
- Increased susceptibility to respiratory infections
- Spine curvatures, such as scoliosis (abnormal sideways curves).
Friedreich’s Ataxia cannot be recovered. Your doctor will treat basic conditions and symptoms instead. For that speech therapy and physical therapy can help you function.
If you need medical advice, you can consult your nearby healthcare professional who has experience with this disease. Or if you can not find one, you can visit our clinic in Delhi NCR or call us on +91-9899437202. For more information, you can browse our website.