What is it?
Myoclonus dystonia, a genetic form of dystonia, is characterised by rapid jerking movements alone or in combination with the sustained muscular contractions and postures of dystonia.
Term used to describe myoclonic dystonia include: myoclonic dystonia, inherited myoclonus-dystonia syndrome, DYT11 dystonia
Note: Some researchers believe myoclonus dystonia is a variation of hereditary essential myoclonus.
Myoclonus is a movement dystonia characterised by sudden, brief, shock-like movements. Individuals with myoclonus dystonia exhibit symptoms of dystonia plus very prominent myoclonic movements. The distribution of these rapid “jerks” is variable but most frequently affects the central part of the body, including the shoulders, arms, neck, and trunk. Rarely are the face and legs affected. (The symptom distribution of myoclonus dystonia is different from typical early onset generalised dystonia as it more often affects the upper body whereas typical early-onset dystonia usually affects the legs). Symptoms may be impacted by the consumption of alcohol. Non-movement related features may be present including depression, anxiety, obsessive -compulsive disorder, personality disorders, and panic attacks. The age of onset is in the first or second decade of life, although some cases of adult-onset have been reported. Most frequently, the disorder appears to be slowly progressive for a few years after onset, stabilizes, and then fluctuates slightly over the years or shows a mild spontaneous improvement.
Myoclonus dystonia is often a familial disorder seen in successive generations. Scientists have uncovered that multiple mutations in the epsilon-sarcoglycan gene associated with this form. The function of this gene is still unknown. This disorder is inherited dominantly but only a percentage of individuals who inherit the mutation develop symptoms.
Sporadic cases may arise, but it is unclear at this time if these cases are actually genetic in which the family history is “masked” by reduced penetrance.
Diagnosis of myoclonus dystonia is based on family history from the affected individual and the physical and neurological examination.
If the condition presents with both myoclonus and dystonia, it may be classified as “myoclonus dystonia” or “hereditary dystonia with lightning jerks responsive to alcohol.” If dystonia is not present or is only a minor component, it may be classified as “hereditary essential myoclonus.” Experts in the movement disorder field are aware of the different diagnoses, and debate continues as to whether all classifications may be an expression of a single genetic disorder.
Medications that may be helpful for the treatment of myoclonus dystonia include benztropine, clonazepam, neuroleptics, and dopamine agonists. A striking feature in some people with myoclonus is the alleviation of symptoms upon ingestion of alcohol, but response varies greatly even within individual families. Deep brain stimulation surgery is emerging as a promising option.
Complementary therapies may be explored, especially physical therapy, aquatic physical therapy, and regular relaxation practices.
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.