Myoclonic dystonia

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Myoclonic Dystonia

Myoclonic dystonia (pronounced: my-o-clonic dis-toe-nee-uh), also known as Dystonia 11 or DYT11, is a rare genetic disorder characterized by rapid, involuntary, jerking movements (myoclonus) and prolonged muscle contractions (dystonia) that may cause repetitive movements or abnormal postures.

Etymology

The term "myoclonic" is derived from the Greek words "myo" meaning "muscle" and "clonus" meaning "violent, irregular movements". "Dystonia" is derived from the Greek word "dystonos" which means "abnormal muscle tone".

Symptoms

The primary symptoms of myoclonic dystonia include rapid, jerking movements that are often triggered by voluntary action or stress. These movements primarily affect the upper body, including the arms, neck, and torso. Dystonia in myoclonic dystonia often presents as a fixed posture or a tremor.

Causes

Myoclonic dystonia is caused by mutations in the SGCE gene. This gene provides instructions for making a protein that is involved in the communication between nerve cells in the brain. Mutations in the SGCE gene disrupt this communication, leading to the symptoms of myoclonic dystonia.

Diagnosis

Diagnosis of myoclonic dystonia is based on a clinical examination, the presence of characteristic symptoms, and genetic testing to identify mutations in the SGCE gene.

Treatment

Treatment for myoclonic dystonia is symptomatic and may include medications, deep brain stimulation (DBS), and physical therapy.

Prognosis

The prognosis for individuals with myoclonic dystonia varies. Some individuals may experience mild symptoms and have a normal lifespan, while others may have severe symptoms that significantly affect their quality of life.

See also

External links

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