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Хвороба Гентингтон-подібна 3

ORPHA:157946· ICD-10 G10· Huntington disease-like 3

Визначення(English summary)

Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood