What is niemann pick disease

The disease has no known cure and is sometimes fatal. Treatment is focused on helping people live with their symptoms. Niemann-Pick care at Mayo Clinic. The signs and symptoms you experience depend on the type and severity of your condition.

Some infants with type A will show signs and symptoms within the first few months of life. Those with type B may not show signs for years and have a better chance of surviving to adulthood. People with type C may not experience any symptoms until adulthood. Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat cholesterol and lipids. The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance.

This means that both the mother and the father must pass on the defective form of the gene for the child to be affected.

Niemann-Pick disease type c. What is Niemann-Pick disease type C? What are lysosomes and what do they do? What causes Niemann-Pick disease type C in children? What are the symptoms of Niemann-Pick disease type C? Doctors use biopsies to measure the levels of ASM, which helps them determine white blood cell production. A blood sample or biopsy will measure the progression or severity of Niemann-Pick disease, revealing its type.

However, doctors sometimes misdiagnose the disease or delay diagnosis because they do not recognize it at first.

As it is so rare, most doctors see few — if any — cases of Niemann-Pick disease throughout their career. No treatments are currently available for Type A, which is typically fatal within the first few years of life.

Doctors treat NPB with enzyme replacement therapy, bone marrow transplants, and gene therapy , which is the process of replacing diseased genes with healthy ones. Doctors employ a range of physical therapy and medicinal solutions to treat NPC. People typically take migulstat, an enzyme inhibitor that prevents the body from producing fatty substances, such as cholesterol.

This treatment reduces fat buildup, thereby mitigating the effects of type C. As each type of Niemann-Pick disease manifests differently, the outlook and life expectancy vary.

The majority of children with NPA do not survive beyond their first few years due to the severity of the symptoms. NPB, which is also known as juvenile onset Niemann-Pick disease, usually occurs in preadolescence. Although it shares some symptoms with NPA, its symptoms are usually less severe.

It is not uncommon for individuals with NPB to live into adulthood. NPC is also incurable, but the outlook for people with this disease ultimately depends on when complications begin. Although all those with the disease have it from birth, the symptoms may sometimes not become apparent until later in life.

If the symptoms appear in infancy or childhood, life expectancy is often less than a few years. Editorial team. Niemann-Pick disease. Type A usually begins in the first few months of life. Symptoms may include: Abdominal belly area swelling within 3 to 6 months Cherry red spot at the back of the eye on the retina Feeding difficulties Loss of early motor skills gets worse over time Type B symptoms are usually milder.

Symptoms may include: Difficulty moving limbs that may lead to unsteady gait, clumsiness, walking problems Enlarged spleen Enlarged liver Jaundice at or shortly after birth Learning difficulties and intellectual decline Seizures Slurred, irregular speech Sudden loss of muscle tone that may lead to falls Tremors Trouble moving the eyes up and down.

Exams and Tests. At this time, there is no effective treatment for type A. A new medicine called miglustat is available for the nervous system symptoms of type C. These organizations can provide support and more information on Niemann-Pick disease: National Institute of Neurological Disorders and Stroke -- www. Outlook Prognosis. NPD type A is a severe disease.

It usually leads to death by age 2 or 3. Those with type B may live into late childhood or adulthood. When to Contact a Medical Professional. Call your provider if your child has symptoms of this disease, including: Developmental problems Feeding problems Poor weight gain. A few centers offer tests to diagnose a baby still in the womb. Alternative Names. Niemann-Pick foamy cells Autosomal recessive. Genetic Brain Disorders Read more.