Jankovic–Rivera syndrome
Jankovic–Rivera syndrome is a rare neurological disorder characterized by adult-onset muscle weakness, tremors, and Parkinsonism. It is named after the two physicians, Dr. Joseph Jankovic and Dr. Salvador Rivera, who first described the syndrome in 2001.
Etiology[edit | edit source]
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. Some researchers suggest that it may be caused by a mutation in a gene that is involved in the function of neurons.
Symptoms[edit | edit source]
The symptoms of Jankovic–Rivera syndrome typically begin in adulthood. The most common symptoms include muscle weakness, tremors, and signs of Parkinsonism such as bradykinesia (slowness of movement), rigidity, and postural instability. Some patients may also experience dysphagia (difficulty swallowing), dysarthria (difficulty speaking), and dystonia (involuntary muscle contractions).
Diagnosis[edit | edit source]
Diagnosis of Jankovic–Rivera syndrome is based on the presence of characteristic symptoms, a family history of the disorder, and the exclusion of other neurological disorders. There is currently no specific diagnostic test for the syndrome.
Treatment[edit | edit source]
There is no cure for Jankovic–Rivera syndrome. Treatment is symptomatic and may include medications to manage tremors and Parkinsonism, physical therapy to improve muscle strength and mobility, and speech therapy to manage dysarthria and dysphagia.
Prognosis[edit | edit source]
The prognosis for individuals with Jankovic–Rivera syndrome varies. Some individuals may experience a slow progression of symptoms over many years, while others may experience a more rapid progression of the disease.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Jankovic–Rivera syndrome is a rare disease.
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