Ramos-Arroyo syndrome
Ramos-Arroyo Syndrome
Ramos-Arroyo Syndrome (pronounced: rah-mos a-roy-o sin-drome) is a rare genetic disorder that primarily affects the nervous system and the eyes. The syndrome is named after the Spanish geneticist Dr. Maria Antonia Ramos-Arroyo, who first described the condition.
Etymology
The term "Ramos-Arroyo Syndrome" is derived from the name of the geneticist who first described the condition, Dr. Maria Antonia Ramos-Arroyo. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".
Symptoms
The symptoms of Ramos-Arroyo Syndrome can vary greatly among affected individuals. However, common symptoms include neurological problems such as seizures, intellectual disability, and developmental delay. Affected individuals may also have eye abnormalities such as cataracts and retinal dystrophy, which can lead to vision loss.
Causes
Ramos-Arroyo Syndrome is caused by mutations in a specific gene known as the PRPF8 gene. This gene provides instructions for making a protein that is involved in the process of RNA splicing, which is an important step in the production of proteins.
Diagnosis
The diagnosis of Ramos-Arroyo Syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing, which can identify mutations in the PRPF8 gene that cause the syndrome.
Treatment
There is currently no cure for Ramos-Arroyo Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy. Individuals with vision loss may benefit from services for the visually impaired.
See Also
External links
- Medical encyclopedia article on Ramos-Arroyo syndrome
- Wikipedia's article - Ramos-Arroyo syndrome
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