Hereditary Ataxias
A 12-year-old presents with progressive gait difficulties over 2 years. Examination reveals gait ataxia, absent deep tendon reflexes, positive Romberg sign, and bilateral pes cavus. There is also dysarthria and bilateral Babinski sign. Scoliosis of 25 degrees is noted on spine examination. Echocardiogram shows concentric left ventricular hypertrophy. Regarding this condition:
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Friedreich ataxia is caused by GAA trinucleotide repeat expansion in the FXN gene on chromosome 9, l...
The classic presentation includes progressive gait and limb ataxia, absent lower limb reflexes, dysa...
Friedreich ataxia is X-linked recessive and primarily affects males; cardiac involvement is rare and...
Hypertrophic cardiomyopathy occurs in 60-100% of patients and is the most common cause of death; car...
Scoliosis occurs in approximately 80% of patients with Friedreich ataxia; curve progression is often...
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Click T (True) or F (False) for each option