Myoclonus dystonia is a movement disorder that causes involuntary twisting and pulling movements, in some parts of the body. The following HealthHearty article provides a brief account of this disorder with respect to the causes, symptoms, and treatment options available.
Myoclonus dystonia is a movement disorder characterized by involuntary jerks, and twitching movements. The symptoms usually appear in childhood, or early adolescence. The spasms are triggered due to specific movements, stress, caffeine, alcohol, or sudden noise. When the sudden jerks cause relaxation of muscles, the condition is called ‘negative myoclonus’. On the contrary, when these jerks involve muscle contractions, the condition is called ‘positive myoclonus’.
This rare disorder is said to be caused by mutations in the epsilon-sarcoglycan (SGCE) gene, that codes for the ε-sarcoglycan protein. The function of this protein is unknown, but it is present in the cell membranes of neurons and muscle cells. A deficiency of this protein affects the control and coordination of movements.
Myoclonus dystonia is inherited in an autosomal dominant manner, that means, only one copy of the altered gene is necessary for the expression of this disorder. Only the paternal copy of the SGCE gene is active, and therefore the child is affected only if he/she inherits a defective gene from the father. However, if the mutation is inherited from the mother, the gene will not be expressed, and the child will be healthy.
The symptoms include sudden, shock-like movements that occur for a brief period. Such involuntary spasms affect the arms, neck, and trunk region. There are very few cases, wherein the face and legs are involved. These symptoms tend to aggravate on consumption of alcohol. Other symptoms include anxiety, depression, panic attacks, obsessive compulsive disorder, and other personality disorders. The disorder may progress gradually, and then stabilize, or may worsen over the years.
Diagnosis and Treatment
The diagnosis is based on family history and genetic testing, as well as a physical and neurological examination. The treatment involves medication like benztropine, clonazepam, neuroleptics, dopamine agonists, etc. In some patients suffering from alcohol-responsive dystonia, it has been found, that the ingestion of alcohol somehow alleviates the condition. In severe cases, deep brain stimulation may be advised. If you have any queries, speak to your healthcare provider for more details.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a substitute for professional medical advice.