​Dopamine-Responsive Dystonia

Dopamine-responsive dystonia (DRD), as the name suggests, is a type of dystonia - that is, a disease in which your muscles contract involuntarily, causing uncontrollable, repetitive or twisting movements. It is a rare but treatable disease characterized by an abnormal, stiff legged manner of walking, with upward bending of the sole of your foot, or turning of your foot outward at the ankle; this is known clubbed feet. It is accompanied by a tendency to walk on your toes. This type of dystonia is called dopamine-responsive dystonia because the symptoms improve with sustained use of a medication known as dopamine.

Symptoms of dopamine-responsive dystonia usually appear during childhood, most commonly around the age of six. However, there have been cases of adult onset DRD as well. The disease spreads to the upper limbs over time, worsening from adolescence until about the age of thirty. Symptoms usually improve during sleep and you may even be free of symptoms in the morning; however, they tend to worsen during the day.

It is an inherited disorder caused by a gene abnormality and can be passed on from either parent to their children. This gene abnormality interferes with the production of the chemical dopamine, which is why dopamine is effective in treating it.

When to seek expert advise

If you or your child is experiencing any of the symptoms mentioned above, it is recommended that you consult with your doctor immediately. You can obtain additional information and expert medical advice from the highly trained and internationally accredited staff at the Mind and Brain Service Line at The Aga Khan University Hospital.

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