Huntington disease
Synopsis

HD inheritance is characterized by anticipation. Successive generations, especially with paternal inheritance, tend to have a greater number of CAG repeats and thus an earlier age at onset.
Juvenile HD, also called the Westphal variant, presents before age 21 years and accounts for less than 10% of all cases of HD. Juvenile HD typically presents with dysarthria, difficulty walking, and cognitive and behavioral changes. Over time, parkinsonism (bradykinesia or akinesia and rigidity) and seizures develop. Chorea and dystonia may occur later in the disease course. The disease progresses more rapidly in children than it does in adults, and patients survive on average 8-10 years following symptom onset.
Codes
G10 – Huntington's disease
SNOMEDCT:
58756001 – Huntington's chorea
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Last Updated:01/17/2022