Niemann-Pick disease type C, adult neurologic onset is a rare, inherited metabolic disorder that affects the nervous system. It is characterized by progressive neurological deterioration, including difficulty with movement, speech, and swallowing, as well as cognitive decline. It is caused by a mutation in the NPC1 or NPC2 genes, which are responsible for transporting cholesterol and other lipids within cells. Symptoms typically begin in adulthood, but can also occur in childhood. Treatment is supportive and may include physical, occupational, and speech therapy, as well as medications to manage symptoms.

The symptoms of Niemann-Pick disease type C, adult neurologic onset, can vary from person to person, but may include:

- Slurred speech

- Difficulty walking

- Muscle weakness

- Loss of coordination

- Difficulty swallowing

- Seizures

- Memory loss

- Behavioral changes

- Vision problems

- Hearing loss

- Dementia

- Fatigue

- Difficulty with balance

- Difficulty with speech

- Difficulty with fine motor skills

Niemann-Pick disease type C, adult 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, which can cause 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 in the body and slow the progression of the disease.

2. Miglustat: This medication helps reduce the amount of cholesterol and other lipids in the body and can help slow the progression of the disease.

3. Bone marrow transplant: This procedure can help replace the defective cells in the body with healthy ones.

4. Enzyme replacement therapy: This therapy can help replace the missing enzyme in the body and can help slow the progression of the disease.

5. Physical therapy: This can help improve mobility and strength, as well as help with coordination and balance.

6. Speech therapy: This can help improve communication skills and help with swallowing difficulties.

7. Occupational therapy: This

1. Family history of Niemann-Pick disease type C
2. Genetic mutation in the NPC1 or NPC2 gene
3. Age of onset between 20 and 40 years
4. Progressive neurological symptoms
5. Abnormal eye movements
6. Impaired speech
7. Difficulty walking
8. Impaired coordination
9. Cognitive decline
10. Seizures
11. Abnormal liver function tests
12. Abnormal cholesterol levels
13. Abnormal spleen size
14. Abnormal white blood cell count
15. Abnormal platelet count
16. Abnormal red blood cell count
17. Abnormal kidney function tests
18. Abnormal electroencephalogram (EEG)
19. Abnormal magnetic resonance imaging (MRI)
20. Abnormal computed tomography (CT) scan

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