Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia

  title={Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia},
  author={Rajendra Singh Jain and Sunil Kumar and Shankar Tejwani},
INTRODUCTION Friedreich's ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of… CONTINUE READING
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