Sands
Sands Syndrome
Sands Syndrome (pronounced: /sændz/ 'sindrom), also known as Sialidosis or Mucolipidosis Type I, is a rare genetic disorder characterized by a deficiency of the enzyme neuraminidase. The term "Sands" is an acronym derived from the names of the scientists who first described the condition: Swallowing Atypical Neurodegenerative Disease Syndrome.
Etymology
The term "Sands" is not derived from any specific language root. It is an acronym formed from the initial letters of the descriptive terms for the condition. The term "Syndrome" comes from the Greek "σύνδρομο" (syndrome), which means "running together," referring to the group of symptoms that run together to define a particular condition.
Symptoms
The symptoms of Sands Syndrome can vary greatly from person to person. However, common symptoms include ataxia (lack of muscle control), cherry-red spots in the eyes, hepatomegaly (enlarged liver), and splenomegaly (enlarged spleen).
Diagnosis
Diagnosis of Sands Syndrome is typically made through a combination of clinical examination and genetic testing. The presence of a mutation in the NEU1 gene is confirmatory.
Treatment
There is currently no cure for Sands Syndrome. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy for ataxia, and regular monitoring for organ enlargement.
Prognosis
The prognosis for individuals with Sands Syndrome varies depending on the severity of symptoms. Some individuals may live into adulthood, while others may have a significantly shortened lifespan due to complications from the disease.
See Also
External links
- Medical encyclopedia article on Sands
- Wikipedia's article - Sands
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