What is Sialidosis

Sialidosis is a rare genetic disorder that affects the metabolism of certain substances in the body. It is caused by mutations in the NEU1 gene, which leads to a deficiency of the enzyme neuraminidase. This enzyme is responsible for breaking down certain complex molecules called sialic acids.

Sialidosis can be classified into two types: type I and type II. Type I, also known as cherry red spot-myoclonus syndrome, typically presents in childhood or adolescence. Symptoms may include muscle stiffness, seizures, intellectual disability, and a cherry-red spot in the eye.

Type II sialidosis, also called the dysmorphic type, is usually more severe and can manifest in infancy. In addition to the symptoms seen in type I, individuals with type II may experience coarse facial features, skeletal abnormalities, organ enlargement, and impaired vision or hearing.

Diagnosis of sialidosis involves genetic testing to identify mutations in the NEU1 gene. Treatment options are limited and mainly focus on managing the symptoms. Supportive care, physical therapy, and medications to control seizures or muscle stiffness may be recommended.

Sialidosis is a complex disorder that requires ongoing medical management and support. Genetic counseling is crucial for affected individuals and their families to understand the inheritance pattern and potential risks for future generations.