What causes myoclonic dystonia?

What causes myoclonic dystonia?

Myoclonus dystonia is caused by loss-of-function-mutations in the epsilon sarcoglycan gene (SGCE). The disease is dominantly inherited, however SGCE is an imprinted gene, so only the paternal allele is expressed. Therefore, children suffering from this disease inherit the mutation from the father.

How common is myoclonic dystonia?

Myoclonus- dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with ‘lightning-like’ myoclonic jerks. The estimated prevalence of MDS in Europe is 1/500,000. Disease onset usually occurs in the first or second decade of life.

Is dystonia caused by stress?

Stress or fatigue may bring on the symptoms or cause them to worsen. People with dystonia often complain of pain and exhaustion because of the constant muscle contractions. If dystonia symptoms occur in childhood, they generally appear first in the foot or hand.

Has anyone been cured of dystonia?

Dystonia has no cure, but you can do a number of things to minimize its effects: Sensory tricks to reduce spasms. Touching certain parts of your body may cause spasms to stop temporarily.

What is the difference between dystonia and myoclonus?

Myoclonus is a rapid, brief contraction (‘fast lightning jerk’) of one muscle or a group of muscles. Dystonia is characterized by sustained twisting and repetitive movements that may result in abnormal postures. The abnormal movements most often affect the neck, trunk, and the upper limbs.