Know Your Disease: Niemann-Pick disease type ‘C’ Disease
What is Niemann-Pick disease type C?
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity.
What are the symptoms of Niemann-Pick disease type C?
Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. Patients may survive into adulthood.
· difficulty coordinating movements (ataxia),
· an inability to move the eyes vertically (vertical supranuclear gaze palsy),
· poor muscle tone (dystonia),
· Severe liver disease and interstitial lung disease.
· Problems with speech and swallowing that worsen over time, eventually interfering with feeding.
· Affected individuals often experience progressive decline in intellectual function and about one-third have seizures.
How common is Niemann-Pick disease type C?
The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.
What genes are related to Niemann-Pick disease type C?
gene mutations result in a change in a single protein building block (amino acid) in the NPC1 protein. These mutations usually cause a shortage of
functional protein, which prevents movement of cholesterol and other lipids, leading to their accumulation in cells. Because these lipids are not in their
proper location in cells, many normal cell functions that require lipids (such as cell membrane formation) are impaired. The accumulation of lipids and the
cell dysfunction eventually leads to cell death, causing the tissue and organ damage seen in Niemann-Pick disease type C1. Similar clinical features can be
caused due to mutations in NPC2 gene.
How do people inherit Niemann-Pick disease type C?
Niemann Pick disease Type C is diagnosed based on thorough clinical evaluation, identification of characteristic symptoms, detailed patient history.
Niemann Pick disease Type C is usually diagnosed with a skin biopsy which will be used to analyze how skin cells grow, as well as how they move and store
cholesterol using filipin staining. Diagnosis can be confirmed by molecular genetic testing detecting mutations in the NPC1 and NPC2 genes.
Prenatal diagnosis can be performed through chorionic villus biopsy or amniocentesis, if the mutations in the family are known.