dystonia 1, torsion, autosomal dominant
dystonia 1, torsion, autosomal dominantAn autosomal dominant condition (OMIM:128100), which is the most common and severe of the hereditary dystonias, characterised by involuntary, repetitive, sustained muscle contraction or posture involving one or more sites of the body, in absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in childhood; it progresses in ±30% of patients to generalised dystonia within 5 years. Distribution and severity of symptoms range from mild and focal to severe and generalised dystonia.
Caused by defects of TOR1A, which encodes an adenosine triphosphatase thought to act as a chaperone and thereby assist in protein folding.