Niemann Pick Disease Type C (NPC) is a rare, inherited metabolic disorder that affects the body's ability to transport cholesterol and other lipids (fats) within cells. It is characterized by progressive neurological deterioration, including difficulty with movement, speech, and swallowing, as well as liver and spleen enlargement. NPC is caused by mutations in the NPC1 or NPC2 genes, which are responsible for producing proteins that are essential for the transport of cholesterol and other lipids within cells. There is currently no cure for NPC, but treatments are available to help manage symptoms and slow the progression of the disease.

Symptoms of Niemann Pick Disease Type C can vary from person to person, but may include:

- Poor muscle tone

- Slowed growth
- Delayed development
- Seizures
- Difficulty swallowing
- Abnormal eye movements
- Abnormal facial features
- Liver and/or spleen enlargement
- Abnormal accumulation of cholesterol and other lipids in the brain
- Progressive dementia
- Difficulty walking
- Difficulty speaking
- Difficulty with coordination and balance
- Vision and hearing loss
- Abnormal sleep patterns
- Behavioral changes

Niemann Pick Disease Type C (NPC) is a rare, inherited metabolic disorder caused by mutations in the NPC1 or NPC2 genes. These mutations cause a deficiency in the proteins that are responsible for transporting cholesterol and other lipids within cells. This leads to an accumulation of lipids in the cells, particularly in the brain, liver, and spleen, which can cause a variety of symptoms.

The treatments for Niemann Pick Disease Type C (NPC) vary depending on the severity of the condition. Generally, treatments focus on managing symptoms and slowing the progression of the disease. These may include:

1. Dietary modifications: A low-cholesterol diet may be recommended to reduce the amount of cholesterol in the body.

2. Medications: Cholesterol-lowering medications may be prescribed to reduce the amount of cholesterol in the body.

3. Physical therapy: Physical therapy may be recommended to help maintain muscle strength and mobility.

4. Speech therapy: Speech therapy may be recommended to help improve communication skills.

5. Occupational therapy: Occupational therapy may be recommended to help with daily activities.

6. Gene therapy: Gene therapy is a new treatment option that is being studied for NPC.

1. Family history of Niemann Pick Disease Type C
2. Genetic mutation in the NPC1 or NPC2 gene
3. Exposure to certain environmental toxins
4. Low levels of cholesterol in the blood
5. Low levels of sphingomyelin in the blood
6. Low levels of certain enzymes in the blood
7. Abnormal liver function tests
8. Abnormal neurological tests

There is no cure for Niemann Pick Disease Type C, but there are medications that can help manage the symptoms. These include cholesterol-lowering medications, enzyme replacement therapy, and medications to help with neurological symptoms. Additionally, physical, occupational, and speech therapy can help improve quality of life.