परिभाषा
Friedreich’s ataxia is a rare, inherited disease. It causes a gradual breakdown of the nervous system. Friedreich’s ataxia affects nerves in the brain and spinal cord that control movement. It also affects sensory nerves that help with coordination. In later stages, the disease can cause injury to the heart and pancreas.
का कारण बनता है
Friedreich’s ataxia is caused by a problem with a gene called the frataxin gene. This gene is found on chromosome 9q13. To develop this disease, a person must inherit a copy of the defective gene from each parent. However, there are some people with Friedreich’s ataxia that have no family history of the disorder.
जोखिम कारक
There are no known risk factors other than having a parent with the frataxin gene.
लक्षण
Symptoms can be different for each person. The following list describes the most common symptoms:
- Leg weakness, including difficulty walking
- समन्वय की हानि
- बोलने और निगलने में कठिनाई
- Foot deformities
- Foot ulcers
- Hearing loss and/or vision loss
- Eye movement abnormalities
- Movement disorders such as tremor, dystonia, and chorea
निदान
Your doctor will ask about your symptoms. You will also be asked about your medical history, family history, and current medication. A physical exam will be done. If Friedrich’s ataxia is suspected, you may also see a doctor who specializes in the nervous system.
आपकी शारीरिक संरचनाओं की छवियाँ लेने की आवश्यकता हो सकती है। इसके साथ ऐसा किया जा सकता है:
- सीटी स्कैन
- एमआरआई स्कैन
- इकोकार्डियोग्राम
The function of your muscles and nerves may be tested. This can be done with:
- EMG
- nerve conduction studies
The electrical activity of your heart may be assessed. This can be done with:
- इलेक्ट्रोकार्डियोग्राम
- 24-hour holter monitoring
आपके शारीरिक तरल पदार्थ और ऊतकों का परीक्षण किया जा सकता है। इसके साथ ऐसा किया जा सकता है:
- Genetic testing for the frataxin gene
- रक्त और मूत्र परीक्षण
- Nerve or muscle biopsy
उपचार
There is no known cure for this condition.
Long-term management is aimed at maintaining as much function as possible and controlling symptoms. Some treatments that may help include:
- Physical therapy and rehabilitation to cope with muscle weakness
- Putting orthotics in your shoes to provide stability and to help with weakness
- Surgery for correcting foot abnormalities and scoliosis
- Periodic testing for associated conditions of diabetes and cardiomyopathy
रोकथाम
There is no known way to prevent this condition.