About Schindler disease

What is Schindler disease?

Schindler disease is a rare genetic disorder that affects the nervous system. It is a type of lysosomal storage disorder, which means that it is caused by a deficiency of an enzyme that is necessary for the breakdown of certain substances in the body. Symptoms of Schindler disease can include developmental delays, seizures, vision and hearing problems, and difficulty with movement.

What are the symptoms of Schindler disease?

The symptoms of Schindler disease vary depending on the type, but can include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth failure
-Hearing loss
-Vision problems
-Movement disorders
-Behavioral problems
-Speech and language delays
-Muscle weakness
-Abnormalities of the head and face
-Abnormalities of the heart, lungs, and kidneys

What are the causes of Schindler disease?

Schindler disease is caused by a genetic mutation in the NAGLU gene. This gene is responsible for producing an enzyme called alpha-N-acetylgalactosaminidase, which helps break down certain complex sugars. When this enzyme is not produced, the sugars accumulate in the body and cause the symptoms of Schindler disease.

What are the treatments for Schindler disease?

The treatments for Schindler disease vary depending on the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and nutritional support. Medications may also be prescribed to help manage symptoms such as seizures, muscle spasms, and difficulty swallowing. In some cases, surgery may be necessary to correct physical deformities or to help improve mobility. In severe cases, a bone marrow transplant may be recommended.

What are the risk factors for Schindler disease?

1. Family history: Schindler disease is an inherited disorder, so having a family history of the disorder increases the risk of developing it.

2. Gender: Schindler disease is more common in males than females.

3. Age: Schindler disease is most commonly diagnosed in infancy or early childhood.

Is there a cure/medications for Schindler disease?

At this time, there is no cure for Schindler disease. However, there are medications that can help manage the symptoms of the disease. These medications include enzyme replacement therapy, which helps to replace the missing enzyme in the body, and other medications that can help to reduce the symptoms of the disease.