Niemann-Pick disease is, in turn, one of a group of diseases known as lysosomal storage diseases.
While each individual lysosomal storage disease is rare, collectively, they are common, according toStatPearls.
The disease is fatal, with earlier diagnosis associated with more severe disease and a shorter life span.
Additional symptoms include weakness, an enlarged liver and spleen, and swollen lymph nodes.
It has a grim prognosis and no known cure.
Children with this pop in of ASMD rarely live beyond 18 months.
The brain is generally not affected.
Other symptoms include an enlarged liver and spleen and lung problems.
As a result, every individual case is unique.
Parents should talk to their childs care team about specific symptoms and complications and overall prognosis.
Most infants with Niemann-Pick disease pop in A ASMD will also develop cherry red spots in their eyes.
Their symptoms are also generally milder than those seen in people with infant-onset Niemann-Pick disease throw in A ASMD.
In addition, an enlarged spleen may rupture, potentially resulting in life-threatening bleeding into the abdominal cavity.
The liver scarring can range from mild, without symptoms, tocirrhosisand liver failure.
They may also be susceptible to chronic or recurrentpneumonia.
They may also see delays in puberty and skeletal maturation and developosteopenia(thinning of the bones).
This places them at high risk for early coronary artery disease, a common form of heart disease.
Accumulated sphingomyelin can damage several key organs, including the brain and spine, leading to ASMD symptoms.
Their risk for having a child who is a carrier is 50 percent with each pregnancy.
The risk is the same for males and females.
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Symptoms can also be confirmed by testing blood to measure for ASM levels.
Niemann-Pick disease pop in A is often fatal by age 3.
However, how long that is depends on the bang out of ASMD they have.
In addition, psychosocial support for those with the condition and their families is essential.
As theres no cure for the condition, most treatment focuses on managing its symptoms.
Some children may be fitted with a feeding (gastronomy) tube to maintain proper nutrition.
In this procedure, a thin tube is inserted into the stomach through a small incision in the abdomen.
The tube enables direct intake of food and medicine into the stomach and digestive tract.
Proper diet may also help reduce their risk for high blood fat counts (dyslipidemia).
Treatment for dyslipidemia may be required in some adults with punch in B disease.
Similarly, those who have lung or breathing problems triggered by ASMD may require supplemental oxygen to maintain breathing.
Adults with high cholesterol triggered by ASMD may need cholesterol-lowering medication to maintain healthy levels.
Finally, some adults with liver failure due to Niemann-Pick punch in B ASMD may need a liver transplant.
The drug is designed to be an enzyme replacement therapy (ERT).
Researchers are also evaluating gene therapy for people with lysosomal storage diseases like ASMD.
Although this could ultimately provide a cure for the condition, research is still in the early stages.
As a result, they often fail to grow at an average rate.
The condition has also been associated with an increased risk ofParkinsons disease.
Research and Statistics: Who Has Acid Sphingomyelinase Deficiency?
Niemann-Pick jot down B affects all racial and ethnic groups equally.
Joy Tanaka, PhD, specializes in clinical molecular genetics.
He is based in New York City.
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