Huntington's Disease : Genetic Mutation and Abnormal Protein Synthesis In Brain

Huntington's disease is a genetic disorder that is inherited from parents and is caused by changes in the DNA, specifically in the HTT or HD gene, leading to the transfer of mutated genes to children, resulting in the production of abnormal proteins in the brain that cause damage and uncontrollable movements in the hands, feet, and face. Symptoms typically appear between the ages of 30 and 50, but if they occur in childhood, it is called Juvenile Huntington's disease. Other symptoms include mood swings, depression, speech problems, and, in severe cases, dementia. Diagnosis involves physical examination, blood tests, and gene testing, while treatment focuses on managing symptoms through medications such as antidepressants and chorea-controlling drugs like tetrabenazine, as well as physical and speech therapy.

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Keywords :
Chorea
Speech Problems
Abnormal body