Abstract

Huntington’s disease is a neurodegenerative disease which is caused by dominantly inherited cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin gene of chromosome 4. Present survey reveals 2.7 per 100000 people are affected by huntington’s disease worldwide. The symptoms present with these patients are progressive motor, cognitive and psychiatric disorders. The early symptoms are chorea and loss of balance. This review aims to observe the present data available concerning huntington’s disease, symptoms, age of onset, risk factors, benefits of early diagnosis and genetic attribution. There is no cure for the disease. The article searched, selected and reviewed were from google scholar, medscape, NIH MedlinePlus, PubMed database using MeSH terms huntington’s disease, recent therapeutic advancement from 2003 to July 2021 with no language restriction and additional studies were included from the reference lists of relevant articles. The present review provides clinical features, diagnosis, symptomatic management and ongoing research. Hence this review will have an impact to create awareness for the society and researchers to find future treatment for Huntington’s disease.

Highlights

  • Huntington disease (HD) is a highly defective neurodegenerative disease which includes symptoms like progressive motor, cognitive and psychiatric disorders. It occurs by the repetition of cytosine, adenine and guanine (CAG) trinucleotide on the chromosome 4p16.3 in the huntingtin gene [1]

  • This huntingtin gene gets translated into a mutant huntingtin protein [2]

  • At present academic groups are conducting research [PREDICT-HD] on a smaller scale population by collecting family survey and questionnaires, observing communication style and advising genetic testing to improve the quality of life by doing physical therapy and speech pathology regimens, or testing existing drug combinations or alternative therapies to improve side effects or sleep [45, 46]

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Summary

INTRODUCTION

Huntington disease (HD) is a highly defective neurodegenerative disease which includes symptoms like progressive motor, cognitive and psychiatric disorders It occurs by the repetition of cytosine, adenine and guanine (CAG) trinucleotide on the chromosome 4p16.3 in the huntingtin gene [1]. HD advisers are available throughout England and Wales to support patients and their families, and to provide educational input for healthcare professionals caring for people with the disease [26]. At present academic groups are conducting research [PREDICT-HD] on a smaller scale population by collecting family survey and questionnaires, observing communication style and advising genetic testing to improve the quality of life by doing physical therapy and speech pathology regimens, or testing existing drug combinations or alternative therapies to improve side effects or sleep [45, 46]

CONCLUSION
Findings
10. Huntington disease
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