Sialidosis type 1 is a rare, inherited disorder caused by a deficiency of the enzyme sialidase. It is characterized by the accumulation of sialic acid in the body, which can lead to a variety of symptoms including skeletal abnormalities, hearing loss, vision problems, and intellectual disability. It is typically diagnosed in infancy or early childhood. Treatment is supportive and may include physical therapy, speech therapy, and dietary modifications.

The symptoms of Sialidosis type 1 vary from person to person, but may include:

-Developmental delay
-Cherry-red spots in the eyes
-Facial dysmorphism
-Hearing loss
-Cognitive impairment
-Seizures
-Muscle weakness
-Gait abnormalities
-Feeding difficulties
-Growth retardation
-Frequent respiratory infections
-Enlarged liver and spleen
-Abnormal accumulation of glycoproteins in the cells of the body

Sialidosis type 1 is caused by mutations in the NEU1 gene. This gene provides instructions for making an enzyme called sialidase, which is involved in the breakdown of certain complex sugar molecules called sialic acids. Mutations in the NEU1 gene reduce or eliminate the activity of sialidase, leading to the buildup of sialic acids in cells throughout the body. This buildup causes the signs and symptoms of sialidosis type 1.

The treatments for Sialidosis type 1 vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and preventing complications. These may include physical therapy, speech therapy, occupational therapy, and orthopedic care. In some cases, medications may be prescribed to help manage pain, reduce inflammation, and improve muscle strength. Surgery may be recommended to correct skeletal deformities or to improve breathing. In severe cases, a bone marrow transplant may be recommended.

The primary risk factor for Sialidosis type 1 is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, being of Italian descent, and having a parent who is a carrier of the mutated gene.

There is currently no cure for Sialidosis type 1, but medications can be used to manage symptoms. These medications may include enzyme replacement therapy, physical therapy, speech therapy, and medications to help with breathing and other symptoms.