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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Dystonia musculorum deformans

小儿内科

Common symptoms

肌性肌无力、肌张力降低、怪异步态、惊厥、痉挛性斜颈、扭转动作、节段性肌张力障碍、感觉障碍

The pathology of disease

Dystonia musculorum deformans (torsion dystonia) is idiopathic torsion dystonia; childhood onset; DYT1; progressive limb/trunk dystonia; levodopa; botulinum; deep brain stimulation.

Symptoms

Involuntary twisting postures; child/adolescent; task-specific; progression; DYT1; Ashkenazi Jewish; no cognitive decline

Causes

DYT1 (TOR1A) mutation; idiopathic torsion dystonia; childhood onset.

Treatment

Levodopa trial; botulinum toxin; oral anticholinergics; DBS for refractory; neurology

Dept

Neurology / pediatric neurology.

Warm reminder: Health education reference only; seek care at regular hospital.