Rapid-Onset Dystonia Parkinsonism
What is it?
Rapid-Onset Dystonia Parkinsonism (RDP), a rare hereditary form of dystonia, is characterised by the abrupt onset of slowness of movement (parkinsonism) and dystonic symptoms.
Symptoms
The classic features of RDP include involuntary dystonic spasms in the limbs, prominent involvement of the speech and swallowing muscles, slowness of movement, and poor balance. Onset of the combined dystonic and parkinsonian symptoms can be sudden, occurring over hours to days. Some people experience seizures. RDP often follows a fever, prolonged exposure to heat or exercise, childbirth, or emotional stress. Symptoms usually stabilise in less than four weeks, after which, it is reported, there is little progression and symptoms may improve slightly. RDP usually occurs in adolescence or young adulthood (age range 15 to 45), but onset of mild dystonia-parkinsonism has been reported in individuals up to the age of 58.
Cause
Several mutations in the ATP1A3 gene (also called the DYT5 gene) are associated with RDP and inherited autosomal dominantly with reduced penetrance. This means that only one parents needs to have the gene mutation for a child to inherit the disease, but not everyone who inherits the gene mutation will develop symptoms.
Diagnosis
Diagnosis is based on neurological examination. Tests such as CT or MRI are normal. A family history is required to distinguish the mild limb dystonia of RDP from early-onset dystonia.
Treatment
Treatment options for RDP at this time is limited and must be customized to the individual’s unique needs. Levodopa/carbidopa, or dopamine agonists may provide some mild improvement in some affected individuals. Individuals may benefit from non-drug approaches such as physical therapy and complementary therapies such as regular relaxation practices.
Support
Dystonia and its emotional offshoots affect every aspect of a person’s life – how we think, the way we act, and how we cope. By educating yourself with information, you have taken the first step in dealing with dystonia.
Stress is an inevitable part of life, and although it clearly does not cause dystonia, it can aggravate dystonia symptoms. Stress-reduction programmes such as relaxation techniques, meditation, and journal writing may be beneficial.
Sometimes depression can be a byproduct of dystonia. Depression may aggravate symptoms and make them worse, but, often, treating depression can result in an improvement of dystonia. It is important to remember that depression is a disorder; it is treatable and not a reflection of one’s self.
Many people are experiencing similar symptoms. Reassurance from family, friends, and others who have dystonia is beneficial. Sharing experiences at support group meetings offers encouragement, camaraderie, and the latest information about new treatments and medical advances.