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Первинна дистонія, тип DYT27

ORPHA:464440· ICD-10 G24.1· Primary dystonia, DYT27 type

Визначення(English summary)

A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.

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