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
› Author Affiliations

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.



Publication History

Publication Date:
24 April 2020 (online)

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