What are the symptoms? Expand Symptoms of myoclonus dystonia include: abnormal, sometimes painful, repetitive movements usually in the arms, trunk, and neck myoclonic jerks psychological symptoms such as obsessive-compulsive disorder, anxiety or lowered mood (depression). (These psychological impacts are more likely if the myoclonus dystonia is caused by a mutation within the DYT11 gene.) Stress and anxiety are known to exacerbate the symptoms.
Who does it affect? Expand Myoclonus dystonia appears in about 50% of cases of people experiencing frequent myoclonic jerks Myoclonus dystonia usually starts at a young age, between 0-20 years old
What are the common treatments? Expand Oral medication Botulinum toxin injections Deep brain stimulation Psychological support
What are the causes? Expand Dystonia is caused by incorrect signals from the brain to the affected body part but the causes for this are not yet fully understood. However, many cases of myoclonus dystonia are inherited, caused by mutations in a specific gene. The fault is found on the DYT11 gene (or SGCE gene). There is a 50% chance that a child will inherit the mutation if one parent has it. But inheriting the gene does not necessarily mean they will develop myoclonus dystonia. ‘Maternal imprinting’ means the disorder may be passed down through families but only show in a grandmother and grandchildren. This happens when the gene is passed down by the mother and ‘switched off’ for her children. It is then ‘switched back on’ again when passed on by any male children to their offspring. E.g. There is a 50% chance that a son inherits the gene and if he does so then, for each of his children, a 50% chance that he will pass the gene on to them. There are also a number of families with myoclonus dystonia but no DYT11 mutation, suggesting that there may be other genes that can cause this disorder and that more research needs to be done. Sometimes a single case of myoclonus appears although no-one else in the family is affected. This is called a sporadic case. As sporadic cases of myoclonus dystonia have similar symptoms to familial cases it is possible that, even if the DYT11 mutation is not present, many of these will also have a genetic cause that has not yet been identified.
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. Some find the jerking movements may improve when alcohol is taken but this does increase the risk of alcohol abuse and consequent resulting long-term health effects.