Niemann-Pick disease type C, late infantile neurologic onset is a rare, inherited metabolic disorder that affects the nervous system. It is caused by a deficiency of an enzyme called acid sphingomyelinase (ASM). This enzyme is responsible for breaking down a fatty substance called sphingomyelin, which is found in the cells of the body. Without this enzyme, sphingomyelin accumulates in the cells, leading to progressive damage to the brain, liver, and other organs. Symptoms of Niemann-Pick disease type C, late infantile neurologic onset typically begin in infancy or early childhood and include developmental delays, seizures, difficulty swallowing, and progressive loss of motor skills. There is currently no cure for this disorder, but treatments are available to help manage symptoms.

Symptoms of Niemann-Pick disease type C, late infantile neurologic onset, can include:

-Developmental delay
-Loss of previously acquired skills
-Impaired motor skills
-Difficulty walking
-Unsteady gait
-Loss of coordination
-Abnormal eye movements
-Seizures
-Speech impairment
-Hearing loss
-Behavioral changes
-Difficulty swallowing
-Enlarged liver and spleen
-Jaundice
-Fatigue
-Weight loss
-Anemia
-Frequent infections

Niemann-Pick disease type C, late infantile neurologic onset is caused by mutations in the NPC1 or NPC2 genes. These genes provide instructions for making proteins that are involved in the transport of cholesterol and other lipids (fats) within cells. Mutations in either of these genes lead to an accumulation of cholesterol and other lipids in certain cells, particularly in the brain, liver, and spleen. This accumulation of lipids causes the signs and symptoms of Niemann-Pick disease type C.

1. Cholesterol-lowering medications: These medications, such as lovastatin, can help reduce the amount of cholesterol and other lipids in the body, which can help reduce the symptoms of Niemann-Pick disease type C.

2. Enzyme replacement therapy: This therapy involves replacing the missing enzyme in the body with a synthetic version. This can help reduce the symptoms of the disease.

3. Bone marrow transplant: This procedure involves replacing the bone marrow with healthy bone marrow from a donor. This can help reduce the symptoms of the disease.

4. Dietary changes: Eating a low-fat, low-cholesterol diet can help reduce the symptoms of Niemann-Pick disease type C.

5. Physical therapy: Physical therapy can help improve mobility and strength, as well as reduce the risk of falls.

1. Genetic mutation: Niemann-Pick disease type C is caused by a mutation in the NPC1 or NPC2 genes.

2. Family history: Niemann-Pick disease type C is an inherited disorder, so having a family history of the disease increases the risk of developing it.

3. Ethnicity: Niemann-Pick disease type C is more common in certain ethnic groups, such as Ashkenazi Jews, French Canadians, and Cajuns.

4. Age: Niemann-Pick disease type C typically presents in late infancy or early childhood.

There is no cure for Niemann-Pick disease type C, late infantile neurologic onset. However, there are medications that can help manage the symptoms. These include cholesterol-lowering medications, enzyme replacement therapy, and medications to help manage seizures. Additionally, physical, occupational, and speech therapy can help improve quality of life.