What are the symptoms of Niemann-Pick?
What are the symptoms of Niemann-Pick?
Niemann-Pick signs and symptoms may include:
- Clumsiness and difficulty walking.
- Excessive muscle contractions (dystonia) or eye movements.
- Sleep disturbances.
- Difficulty swallowing and eating.
- Recurrent pneumonia.
What causes Tay Sachs disease?
Tay-Sachs disease is a rare disorder passed from parents to child. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child’s brain and affect the function of the nerve cells.
How do cells compensate for Niemann-Pick disease?
The disease cells may attempt to compensate for this deficit by upregulating Rab9 protein expression. This idea is supported by the fact that NPC1 cells do contain more Rab9 protein than Wt cells (Figure 1A and [19]).
Can Tay-Sachs be cured?
There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. The goal of treatment is support and comfort. Supportive treatments include: Medication.
Who gets Niemann-Pick disease?
Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals.
What is Niemann-Pick disease?
Summary Summary. Listen. Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
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