Sialidosis type 2 is a rare, inherited disorder caused by a deficiency of the enzyme sialidase. It is characterized by progressive neurological deterioration, skeletal abnormalities, and the accumulation of sialic acid in the body. Symptoms may include seizures, intellectual disability, hearing loss, vision problems, and skeletal abnormalities. Treatment is supportive and may include physical therapy, speech therapy, and medications to control seizures.

The symptoms of Sialidosis type 2 vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Cherry-red spots in the eyes
-Facial dysmorphism
-Hearing loss
-Gait abnormalities
-Muscle weakness
-Epilepsy
-Gastrointestinal problems
-Respiratory problems
-Skeletal abnormalities
-Skin abnormalities
-Cataracts
-Corneal clouding

Sialidosis type 2 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 sialoglycans. Mutations in the NEU1 gene reduce or eliminate the activity of sialidase, leading to the buildup of sialoglycans in cells throughout the body. This buildup causes the signs and symptoms of sialidosis type 2.

The treatments for Sialidosis type 2 vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and preventing complications. These may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage pain, seizures, and other symptoms. In some cases, a bone marrow transplant may be recommended.

The risk factors for Sialidosis type 2 include:

1. Family history of the disorder
2. Being of Ashkenazi Jewish descent
3. Being of Italian descent
4. Being of French-Canadian descent
5. Being of Portuguese descent
6. Being of Spanish descent
7. Being of African descent
8. Being of Asian descent
9. Being of Middle Eastern descent
10. Having a mutation in the NEU1 gene

There is currently no cure for Sialidosis type 2, but medications can be used to manage the symptoms. These medications may include enzyme replacement therapy, physical therapy, and medications to help with pain, seizures, and other symptoms.