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CC BY-NC-ND 4.0 · Journal of Health and Allied Sciences NU 2014; 04(02): 133-135
DOI: 10.1055/s-0040-1703782
Case Report

FRIEDREICH ATAXIA – A CASE REPORT

Deepthi R. V.
1   Assistant Professors, Department of Pediatrics, K.S. Hegde Medical Academy, Nitte University, Deralakatte, Mangalore - 575 018, Karnataka, India
,
Seema Pavanam
2   Assistant Professors, Department of Pediatrics, K.S. Hegde Medical Academy, Nitte University, Deralakatte, Mangalore - 575 018, Karnataka, India
,
Vijaya Shenoy
3   Professor & HOD, Department of Pediatrics, K.S. Hegde Medical Academy, Nitte University, Deralakatte, Mangalore - 575 018, Karnataka, India
,
Siddarth S. Joshi
4   Junior Resident, Department of Pediatrics, K.S. Hegde Medical Academy, Nitte University, Deralakatte, Mangalore - 575 018, Karnataka, India
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Abstract:

Friedreich ataxia is an autosomal recessive disorder, due to expansion of trinucleotide repeat in Frataxin gene which presents with ataxic gait, absent tendon reflexes, extensor plantar response and positive Romberg test. We present a child who came with complaints of progressive ataxia of gait since the age of 10 years and was diagnosed to have Friedreich ataxia. They have associated cardiomyopathy and endocrine abnormality like diabetes and hypothyroidism.

Keywords:

Areflexia - Friedreich ataxia - Extensor plantar response - Romberg's sign - Trinucleotide repeat


Publication History

Article published online:
24 April 2020

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  • References

  • 1 Koeppen AH. Friedreich's ataxia: Pathology, pathogenesis and molecular genetics. J Neurol Sci. 2011; 303:1-29.
  • 2 Delatycki MB, Corben LA. Clinical features of Friedreich ataxia. J Child Neurology 2012; 27(9): 1133-1137.
  • 3 Payne RM, Wagner GR. Cardiomyopathy in Friedreich ataxia: Clinical findings and Research. J. Child Neurology 2012; 27(9):1179-86.
  • 4 Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich's ataxia. Am J Hum Genet 1996; 59(3):559-560.
  • 5 Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981; 104:589-620.
  • 6 Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996; 335: 1169–75.
  • 7 Bhidyasiri RB, Perlman SL, Stefan MP, Daniel HG. Late onset Friedreich ataxia. Phenotypic analysis, MRI findings and review of literature. Arch Neurology 2005; 62(12): 1865-1869.
  • 8 Kearny M, Ovrell RW, Fahey M, Pandolfo M. A ntioxidants and other pharmacological treatment for Friedreich ataxia. Cochrane Database Systematic Review 2012 April 18; 4: CD007791.