torsion dystonia 1 (primary or idiopathic dystonia)

Epidemiology

• most common & severetype of dystonia

Genetics

• autosomal dominant
• associated with defects in tor1A gene

Clinical manifestations

• sustained muscle contractions inducing twisting & repetitive movements &/or abnormal posture
• symptoms usually begin in the arms or legs at a mean age of 12 years & progress to other body parts within 5 years

More general terms

• dystonia
• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/128100