Niemann Pick Type C Disease By: Grace Messina 11/28/15 Period 4

What is this disease? Niemann Pick Type C is a disease which you inherit from your parents. This disease makes your body unable to break down lipids and cholesterol easily. So they gather in body parts such as the spleen, liver, and brain. This causes many medical issues to occur.

Cause This disease is an autosomal RECESSIVE gene. Meaning there has to be 2 copies of the mutated or abnormal gene on the chromosome for the disease to be in the body. Chromosome 18 is affected by this. A healthy gene would break down fat and cholesterol and distribute the cells evenly around the body.

Cause Continued This is not a sex linked gene This is not a non-disjunction The only way this is inherited is when each parent has the gene on their chromosome 18. The gene may be there but not affect the parents.(Carriers) But when it is passed on to the offspring, it becomes present.

About the Disease There is a known 500 cases in the world This disease occurs 1 in every 150,000 people There is not a gender this disease occurs more or less in. This disease happens in both females and males. The Puerto Ricans with a Spanish descent and French-Acadian descents found in Nova-Scotia are found to contain this disease more commonly than others

More Facts This disease usually occurs in children who are infants and all the way to early adulthood. The most common age range is But this is when the symptoms start showing. Niemann Pick Type C is fatal and kills the individual before they turn 20 years old.

Interesting Facts NPTC is also known as Childhood Alzheimer's This disease is different in each person in the way it progresses. (for example the age the symptoms start to show) This disease is a lysosomal storage disease (LSD). There are 50 types of LSD and every 30 minutes one child is born with a type of LSD Niemann Pick Type C disease has 4 different forms. (A,B,C,D)

Symptoms List of Symptoms: DeafnessSeizures Brain DamageSlurred and irregular speech BlindnessMuscle tone lessens Genetic DefectsTremors Larger spleen and liverEye movement issues Jaundice (yellow skin at birth)Walking difficulties Difficulty learningDeath

Possible Testing Some possible tests to se if you have NPTC disease are as follows: Skin Biopsy, Bone Marrow Aspiration, Liver Biopsy, and Slit Lamp Eye Exams. Also when you see your liver, spleen, and brain are enlarged, you might be able to tell with other symptoms you have this disease.

Treatment NPTC is fatal There is no cure that has been found. Yet there are medicines that can help lessen the symptoms effects. Such as: Miglustat A low Cholesterol and Fat diet would be preferable and might help lessen the effects of NPTC

Bibliography rticle/ htmhttps:// rticle/ htm 3. pick_diseasewww.ghr.nml.nih.gov/condition/niemann- pick_disease 4. world.com/disability/types/npd.phpwww.disabled- world.com/disability/types/npd.php