A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis

Radhika Dhamija, Salman Kirmani

Research output: Contribution to journalArticle

Abstract

We report a 7 year old girl who was evaluated for progressive thoracolumbar scoliosis and hypertrophic cardiomyopathy. Neurological examination was found to be abnormal and significant for absent reflexes and weakness distally in lower extremities and positive Romberg sign. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Frataxin levels were low at 3ng/mL. Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis. A review of Friedreich ataxia is provided in the case report.

Original languageEnglish (US)
Pages (from-to)67-71
Number of pages5
JournalSeminars in Pediatric Neurology
Volume21
Issue number2
DOIs
StatePublished - Jun 1 2014

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ASJC Scopus subject areas

  • Medicine(all)

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