Huntington's Disease with Retinitis Pigmentosa- a Case Report

Reaz Mahmud, Mansur Habib
2017 Faridpur Medical College Journal  
<p>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
more » ... cted using available medical documentation and tracing other members of his family.</p><p>Faridpur Med. Coll. J. Jan 2017;12(1): 50-52</p>
doi:10.3329/fmcj.v12i1.33492 fatcat:w2nsx5wk45h75llhopwiecwuke