​Dystonia Musculorum

Dystonia musculorum (also known as early onset generalized dystonia or torsion dystonia) is a disease that causes distortion of the limbs, specifically the foot and leg or hand and arm. It is a rare, generalized disease that can be inherited.

Dystonia musculorum is characterized by painful muscle contractions resulting in uncontrollable distortions. This disease is frequently found in children, with symptoms starting around the ages of eleven or twelve, which then become progressively worse. At its peak, this disease can leave you seriously disabled and confined to a wheelchair.

The symptoms commonly begin with contractions in one general area such as an arm or a leg, which continue to progress throughout the rest of your body. It takes around five years for the symptoms to completely progress to a state where you become incapacitated.

Dystonia musculorum is caused by a genetic disorder which results in a defect in a protein called “Torsin A” present in your body. A defect in this protein creates a disturbance in communication between neurons (or brain cells) that control muscle movement and muscle control. This defect is usually inherited from a parent, but can also occur on its own. It is a chronic, and sometimes painful, disorder but it is not fatal or dangerous.