Friedreichs ataxia
Friedreichs ataxia or FDRA, is an autosomal recessive inherited disease which cause progressive damage to the nervous system. it can also lead to scoliosis, heart disease and diabetes. The genetic mutation in the intronic GAA triplet repeat in the FXN gene leads to reduced expression of the mitochondrial protein frataxin. The ataxia of Friedreichs ataxia results from the degeneration of nervous tissue in the spinal cord, in particular sensory neurons essential for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath.
Symptoms includes Muscle weakness, Loss of coordination, Vision impairment, Hearing impairment, Slurred speech, scoliosis.
Diagnosis can be done by Electromyogram, Electrocardiogram Echocardiogram, Blood tests to check for elevated glucose levels and vitamin E levels, Magnetic resonance imaging, computed tomography scans
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