Todays spotlight is on Myoclonic dystonia
Myoclonic Dystonia is better known as DTY11, myoclonus-dystonia, or according to the updated nomenclature DYT-SGCE, is characterized by rapid, involuntary, jerking movements (myoclonus) with or without sustained dystonic postures. Myoclonus most often affects the neck, trunk, and upper arms. Less commonly, the legs are involved. Myoclonus is caused by muscle contractions or muscle relaxation and cannot be controlled by the affected individual.
Affected individuals may also develop focal or segmental dystonia (e.g. writer’s cramp or cervical dystonia). Generally, dystonia does not worsen or progress in other areas. Additional symptoms that have been reported include panic attacks, anxiety, depression, and obsessive-compulsive disorder. Onset is usually during childhood or adolescence. Most cases of myoclonus-dystonia are caused by mutations in the SGCE gene. The disorder is inherited in an autosomal dominant manner.
Myoclonus is movement dystonia characterized by sudden, brief, shock-like movements. Individuals with myoclonic 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 myoclonic dystonia is different from typical early-onset generalized 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.
More info for Myoclonic dystonia from the Dystonia Medical Researh Foundation Canada