What are the symptoms? Expand Symptoms of dopa-responsive dystonia include: ‘stiff-legged’ way of walking upward bending of the sole of the foot turning of the foot outward at the ankle toe walking muscle spasms tremor The symptoms of Parkinsonism that may show include: slowness of movement stiffness and resistance to movement (rigidity) balance difficulties postural instability Stress and anxiety are known to exacerbate the symptoms.
Who does it affect? Expand Between 30 – 40% of people who carry the gene will develop the condition. Individuals with DYT5 dopa-responsive dystonia often have a parent who also has the faulty gene with or without symptoms. It usually presents itself in childhood between the ages of 6 and 16. It is 2 – 4 times more likely to affect girls than boys.
What are the causes? Expand Dystonia is caused by incorrect signals from the brain to the affected body part. Dopa-responsive dystonia is an inherited type of the condition caused by mutations in a specific gene. The gene abnormality causes a problem with the brain’s production of the chemical dopamine.
What are the common treatments? Expand Oral medication (Levodopa) Physiotherapy Full physical functionality can typically be restored through the use of levodopa (Sinemet) for treatment. Physical therapy may be helpful if problems with walking have been identified or if shortening of the muscles occurred whilst dopa-responsive dystonia was uncontrolled.
How will it affect my life? Expand You may need to find ways to adapt and might have to learn new ways to complete everyday tasks. However, it is possible to live well with the condition and Dystonia UK is here to support you through all stages including initial onset, diagnosis, finding treatment and beyond. As this form of dystonia may be genetic, some people find it helpful to speak to a genetic counsellor, regarding the genetic issues, and what this may mean for you and your family.