Niemann Pick disease is a progressive genetic disorder that leads to the buildup of cholesterol and other fatty substances (such as waxes, fatty acids, oils, and lipids) and cholesterol in cells, eventually resulting in death. People with Niemann-Pick disease have an abnormal lipid metabolism and it typically affects the liver, spleen, brain and bone marrow.
Niemann Pick disease types A and B are often triggered due to the genetic mutations in the SMPD1 gene. These enzymes are responsible for the abnormal functioning of proteins. However, researchers have estimated that the underlying problem in types A and B is due to mutations in the SMPD1 gene and the absence of the enzyme acid sphingomyelinase.
How Long Will It Take To Recover From Niemann Pick Disease?
If the Niemann Pick Disease is diagnosed in the initial stages, the life expectancy would be much better. There is no place for recovery for this condition however several types of research are carried out by the scientists to determine potential treatment and supportive therapies for the effective management of this condition.
Niemann Pick Disease is highly mutable, and the occurrence of this disorder and precise signs differ from one individual to another, perhaps even among members of the same family.
Niemann Pick Disease is associated with a larger group of more than 50 syndromes referred to as lysosomal storage disorders. Some of the other common symptoms are ataxia (a degenerative disease of the nervous system consisting of lack of voluntary coordination of muscle movements resulting in the inability to move the eyes vertically), involuntary muscle tone, lung infections, low platelet count, and severe lung disorders.
How Long Does The Symptoms Last?
This disease can develop in individuals irrespective of the age however; children and newborn have a higher risk of acquiring this condition.
Symptoms Of Type A
- The signs and symptoms of type A of Niemann Pick disease are diagnosed in the initial few months of life
- Cherry red spot of the macula
- Involuntary writhing movements in fingers, hands, toes, and feet
- Diffuse reticular or finely nodular infiltrations
- brain damage along with other neurological problems, such as a loss of reflexes
- Global developmental delay
- Some children can survive until 5 years of age however major instances die in infancy
Symptoms Of Type B
The signs of type B of Niemann Pick disease generally arise in late childhood or teenage years. Signs and symptoms may include
- An enlarged liver and spleen
- Impaired lung function
- Growth restriction and delayed bone age (slowed mineralization of bone)
- A low number of platelets in the blood
Niemann Pick disease Type B is not as fatal as type A. There are some measures to combat the symptoms and lengthen the lifespan of the patients. Infants and children affected with this type survive until early or late childhood. However, they experience multiple complications and failure of organs.1. 2
Type C Symptoms
Symptoms of type C of Niemann Pick disease is often noticed in children around 5 years old. But medical studies state that individuals irrespective of their age get affected by this disease
- Vertical supranuclear gaze palsy
- developmental milestones
- pre-senile cognitive decline
- The progressive development of treatment-resistant psychiatric symptoms
- difficulty speaking and swallowing
This is one of the most fatal among the types. Niemann Pick disease type C is estimated to occur in 1 in 120,000 live births. Many conditions go undiagnosed and eventually results in severe complications and highly fatal. Potential diagnosis helps to identify this condition; thus, life expectancy is invariably dependent on the severity of the condition. In most cases, children do not live more than the age of 5. However, when it occurs in late childhood or in adolescence they live until 20 years of age.3
- Niemann Pick Disease – Cleveland Clinic https://my.clevelandclinic.org/health/articles/6059-niemann-pick-disease-np
- What Are the Symptoms of Niemann-Pick Disease? https://www.healthline.com/health/niemann-pick-disease#symptoms
- Rare Disease Database -Niemann Pick Disease https://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/