Jankovic-Rivera syndrome

Jankovic-Rivera syndrome is a rare neurological disorder characterized by a combination of symptoms including muscle weakness, tremors, and dystonia. The syndrome was first described by neurologists Vladimir Jankovic and Carlos Rivera in the late 20th century.

Symptoms and Signs

The primary symptoms of Jankovic-Rivera syndrome include progressive muscle weakness, tremors, and dystonia. Muscle weakness typically begins in the distal muscles (those farthest from the center of the body) and gradually progresses to the proximal muscles (those closer to the center of the body). Tremors are usually most noticeable in the hands and arms but can affect any part of the body. Dystonia, a condition characterized by involuntary muscle contractions, can cause abnormal movements and postures.

Causes

The exact cause of Jankovic-Rivera syndrome is currently unknown. However, it is believed to be a genetic disorder, as it often appears in multiple members of the same family. Research is ongoing to identify the specific gene or genes involved.

Diagnosis

Diagnosis of Jankovic-Rivera syndrome is based on the presence of the characteristic symptoms and a family history of the disorder. Genetic testing may also be used to confirm the diagnosis and identify other family members who may be at risk.

Treatment

There is currently no cure for Jankovic-Rivera syndrome. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy to improve muscle strength and flexibility, medication to control tremors and dystonia, and supportive care to address any other health issues related to the disorder.

See Also

• Neurological disorders
• Genetic disorders
• Muscle weakness
• Tremors
• Dystonia