Niemann pick disease is a condition that is inherited and is a group of metabolic disorders included in the family of LSD’s the technical term being – Lysosomal storage diseases. This is a group of metabolic disorders which are inherited resulted from lysosome malfunction. With this malfunction, a person’s body is not able to break down fats completely and they accumulate within the tissues and organs causing damage.
What Are The Signs And Symptoms Of Niemann Pick Disease?
The symptoms of niemann pick disease may differ according to the types of the disease. Although this disease affects males and females from all groups, the chance of getting this disease is higher to certain populations such as: Ashkenazi Jewish population- Types A and B, Maghreb region – Type B, Spanish-American of southern New Mexico as well as Colorado- Type C.
The French Canadians of Nova Scotia were designated as having type D, but the term is no longer used since these people have gene mutations associated with type C1. Type A niemann pick disease appears during infancy and is often referred to as the neurological version as the person’s nervous system is affected. People with type B disease usually live on into adulthood. Type C disease appears in childhood.
As for symptoms of types A and B, they include the enlargement of the liver, brain damage, having a hard time speaking, difficulty swallowing, difficulty walking, loss of muscle tone and high sensitivity to touch. There are also learning difficulties that these types suffer from. Type B does not have symptoms involving the nervous system. People with this type have repeated respiratory infections.
In addition, they suffer from enlarged liver and spleen. Type C usually appears in childhood. The signs of this type include breathing difficulties, developmental delay, liver diseases, dystonia, lack of coordination and feeding problems. People with this type are unable to move their eyes vertically. Type C is subdivided into 2 types- types C1 and C2.
Diagnosis And Treatment
The measurement of the ASM activity in white blood cells is done for the diagnosis as for types A and B; a skin sample can be examined to determine type C. There are no particular treatments for niemann pick disease. However, there are cases in which type B affected individuals have undergone bone marrow transplant. Those with types C are on a low-cholesterol diet. There are organ transplants that have been attempted to treat this disease, but with limited success.
The niemann pick disease is a rare inherited disorder that is caused by genetic mutations; it is classified in a subgroup of LSD’s in which quantities of fatty substances that are harmful accumulate in certain organs such as liver, spleen, bone marrow, brain and lungs. If both parents are carriers of this disease, then each pregnancy has a 25% chance for an affected child.
Carriers are recommended to undergo genetic testing as well as genetic counseling. The signs and symptoms may differ from each type or classification. There are groups or certain populations that have higher risk of getting the disease.