title: A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis.
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.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, MN. Electronic address: Dhamija.radhika@mayo.edu.
authors.forename: Radhika
authors.initials: R
authors.lastname: Dhamija
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, MN.
authors.forename: Salman
authors.initials: S
authors.lastname: Kirmani
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics; D008159:Lumbar Vertebrae; D011859:Radiography; D012600:Scoliosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D013904:Thoracic Vertebrae; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin