Niemann-Pick disease is a genetic disease that leads to the accumulation of fatty products in cells, eventually causing their death. Some children with Niemann-Pick disease do not survive early childhood, while those with certain forms (type B, type C1, type C2) can survive into adulthood.

Types of Niemann-Pick disease

Niemann-Pick disease type A

Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure.

All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood.

Niemann-Pick disease type B

Niemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood.

Niemann-Pick disease type C1 and type C2

The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time.

Patients with these types usually develop difficulty coordinating movements (ataxia – an inability to move the eyes vertically in other word “vertical supranuclear gaze palsy“), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have 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. Patients with these types may survive into adulthood.

Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Acid sphingomyelinase is responsible for the conversion of a fat (lipid) called sphingomyelin into another type of lipid called ceramide.

Mutations in SMPD1 lead to a shortage of acid sphingomyelinase, which results in reduced break down of sphingomyelin, causing this fat to accumulate in cells. This fat buildup causes cells to malfunction and eventually die. Over time, cell loss impairs function of tissues and organs including the brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B.

Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease type C. The proteins produced from these genes are involved in the movement of lipids within cells. Mutations in these genes lead to 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 as well as the cell dysfunction eventually leads to cell death, causing the tissue and organ damage seen in Niemann-Pick disease types C1 and C2.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

• lipid histiocytosis
• neuronal cholesterol lipidosis
• neuronal lipidosis
• NPD
• sphingomyelin lipidosis
• sphingomyelin/cholesterol lipidosis
• sphingomyelinase deficiency.

Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity and affected parts/organs.

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Allopathic treatment for Niemann-Pick disease

There is currently no cure for Niemann-Pick disease in allopathic medicines. Treatment is supportive. Children usually die from infection of the nervous system or progressive neurological loss.

There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. The development of enzyme replacement and gene therapies might also be helpful for those with type B.

Restricting one’s diet does not prevent the buildup of lipids in cells and tissues.

Infants with type A die in infancy. Children with type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of patients with type C varies: some individuals die in childhood while others who appear to be less severely affected can live into adulthood.

Homeopathic Treatment for Niemann-Pick disease

As we know that Niemann-Pick disease is a condition that affects many body systems/organs. It has a wide range of symptoms that vary in severity and affected parts/organs, that’s why it’s Homeopathic treatment will be individual and symptomatically.

For different types of liver diseases and their causes – Click Here.

For cholesterol – Click Here.

For different types of spleen diseases and their causes – Click Here.

For cerebral ischemia Click Here.

For different types of cerebrospinal diseases – Click Hers.

For different types of respiratory tract/lungs diseases – Click Here.

For different types of eye diseases – Click Hers.

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