Huntington’s disease: Pathophysiology, Diagnosis, Treatment and Rehabilitation

Abstract

This review of the clinical stage of Huntington's disease contain recent developments in pathophysiology, preclinical diagnosis and treatment. Huntington disease (HD) is a neurodegenerative disorder of the central nervous system characterized by undesirable involuntary movements, psychiatric and behavioral disturbances and dementia. Prevalence in the introvert population is estimated at 1/10,000-1/20,000. Mean age start of symptoms is 30-50 years. In some cases sign and symptoms will be start before the age of 20 years. with behavior disturbances and learning trouble at school (Juvenile Huntington’s disease; JHD). The classic sign is chorea that involuntary movement to all muscles. All psychomotor processes become seriously slow down. The functional disorder is not clear, applications of recently developed neural connection models have suggest a number of important brain-behavior interrelation. HD is an chromosome dominant inherited disease caused by an expanded CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtine gene.
The longer the CAG repeat, the earlier the start of disease. Diagnosis is based on clinical symptoms and signs in a single or a parent with proven HD, and fixed by DNA resolution. Premanifest diagnosis should unique be performed by multifaceted teams in healthy at-risk adult individuals . they carry mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or spontaneous disorders. hypomorphic (clinically diagnosed cases of HD without the genetic mutation) are observed. Prenatal diagnosis is possible by chorionic ileum sampling or ancients.