What is the prevalence of Sialidosis?
How many people does Sialidosis affect? Does it have the same prevalence in men and women? And in the different countries?
Sialidosis is a rare genetic disorder characterized by a deficiency of the enzyme neuraminidase. It is divided into two types: type I and type II. The prevalence of Sialidosis is estimated to be less than 1 in 1 million individuals worldwide. Type I is more common and typically presents in childhood, while type II is rarer and has a later onset. Symptoms can vary widely but may include developmental delays, skeletal abnormalities, and impaired vision. Genetic counseling and supportive care are important for managing this condition.
Sialidosis is a rare genetic disorder characterized by a deficiency of the enzyme neuraminidase, which leads to the accumulation of certain substances in the body. There are two types of sialidosis: type I and type II.
Type I sialidosis is the milder form and typically presents in late childhood or adolescence. Symptoms may include skeletal abnormalities, muscle weakness, intellectual disability, and impaired coordination. The prevalence of type I sialidosis is estimated to be around 1 in 1 million individuals worldwide.
Type II sialidosis is the more severe form and usually manifests in infancy. It is characterized by a more rapid progression of symptoms, including developmental delay, seizures, enlarged liver and spleen, and coarse facial features. The prevalence of type II sialidosis is extremely rare, with only a few dozen cases reported worldwide.
Due to the rarity of sialidosis, it is considered an orphan disease. Diagnosis is often challenging, and treatment options are limited to managing the symptoms and providing supportive care.
Posted Aug 11, 2017 by Trajano 5900
