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dystonia juvenile-onset (DYTJ)

DYTJ is a form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTJ patients manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss.

TYPE: deafness (hearing impairment)

Related patway(s): chromatin remodeling

DNAtraffic protein(s) related to disease: ACTB

OMIM: 607371

Last modification date: Aug. 23, 2011