Overview
Disease Pattern and Clinical Meaning
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the HTT gene.
NCLEX-RN
NCLEX-RN
Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the HTT gene. The abnormal huntingtin protein progressively damages medium spiny neurons in the striatum and contributes to cortical degeneration. As these motor circuits lose their ability to regulate movement, the person may first develop chorea (irregular, flowing, involuntary movements) and later develop bradykinesia, rigidity or dystonia. Epidemiology and course that matter for nursing - Prevalence estimates differ by region and by how cases are found. A 2022 meta-analysis of studies from 2011 to 2022 pooled prevalence at 8.87 per 100,000 in North America (95% CI 4.69 to 16.78), 6.37 per 100,000 in Europe (95% CI 4.50 to 8.91) and 0.25 per 100,000 in Africa (95% CI 0.02 to 2.61). - HD typically appears in adult life, with a mean age of onset around 40 to 50 years. Median survival after onset is 15 to 18 years. - The juvenile form means symptom onset before age 20 years in some sources and before age 21 years in others, and the CAG repeat is over...
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