Huntington's Disease with Retinitis Pigmentosa- a Case Report

Abstract

Huntington's disease (HD) is a chronic neurodegenerative disorder, characterized by the following triad of clinical hallmarks: autosomal dominant inheritance, choreoathetosis, and dementia. In 1993 the genetic mutation responsible for HD was identified and mapped on the chromosome 4p16.3. The mutation is a characteristic expansion of a CAG nucleotide triplet. In this paper we present a 36-years-old male patient with HD. Additionally he also had retinitis pigmentosa. His pedigree was reconstructed using available medical documentation and tracing other members of his family.

Faridpur Med. Coll. J. Jan 2017;12(1): 50-52