Friedreich's ataxia is a genetic disorder that causes a lack of coordination called ataxia. It is inherited in an autosomal recessive pattern and is caused by a mutation on chromosome 9 that results in reduced levels of frataxin protein. Signs and symptoms include difficulty walking, limb incoordination, loss of sensation, scoliosis, diabetes, and heart problems. Diagnosis involves genetic testing, neurological exams, and ruling out other potential causes. While there is no cure, some treatments can help manage symptoms.

1. N. Friedreich Ataxia
By Mohammad Zubair

2. What is ataxia?
Ataxia = A (lack of) taxia (coordination)

3. What is Friedreich's ataxia ?

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6. Genetics
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12. Signs and symptoms
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13. •Signs and symptoms cont….
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16. Diagnosis
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18. Differential diagnosis

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20. 1. Idebenone
 short chain quinine analogue
 Act as potent antioxidant
and electron carrier
 Benefit neurological function
2. deferiprone (an iron chelator)
3. erythropoietin, pioglitazone
4. peroxisome proliferatoractivated receptors