Niemann Pick disease, or Niemann Pick syndrome, is a metabolic disease that leads to certain enzyme defects through gene damage. Affected is the enzyme sphingomyelinase. The enzyme defect causes the storage of sphingomyelin, which manifests as a severe metabolic disorder predominantly in the central nervous system, liver, and spleen. This is referred to as sphingolipidoses, which stands for hereditary metabolic disorders and leads to inborn errors in the metabolism. This leads to certain symptoms, such as mental and physical developmental disorders or enlargements of the liver, kidneys, and spleen.(1)
Best Exercises/Activities For Niemann Pick Disease
Physiotherapy for Niemann Pick disease helps with mobility and maintaining limb and whole-body movement as far as possible. However, the situation usually deteriorates over time and physiotherapy can only extend the period of movement. An adequately skilled physical therapist should frequently assess the balance, mobility, spasticity, control of the trunk, primary stabilization of the whole body, posture of the foot and overall strength. Approaches to keep mobility optimum and decrease cases of falls should be proactively attempted. The aim should be to provide such as proper walking-mobility support, ankle-foot orthotics, and physiotherapy programs. An organized and individualized rehabilitation program can extend mobility and ability to transfer.
Niemann Pick disease progress gradually, thus requiring frequent follow-ups. During diagnosis, treatment objectives should be identified after assessing patient condition and severity of the disease. Niemann Pick disease patients need to be evaluated frequently to improve or maintain the psychological, social, and physical well-being of the patient and family members.(5)
Types Of Niemann Pick Disease
There are three types of Niemann-Pick disease: A to C. The three types can be classified according to the time of onset, the courses, and symptoms. The type-1 occurs already in the first months of life and shows, for example, jaundice, drinking or feeding disorders and progressive mental and physical deficits such as thinking or running. The course of the disease is very dynamic and leads to rapid physical decay. In the second year of life, severe neurological symptoms such as blindness or spasticity occur.
In type 2 there is a milder course, which is very varied and shows the first symptoms through liver and spleen enlargements, usually after the tenth year of life. For example, patients may be susceptible to viral infections, dwarfism, shortness of breath, or activity limitations. Neurological symptoms can occur sporadically. Life expectancy is often not severely limited in this form.
The Type 3 form can occur at various early stages of life, for example at school age or in adulthood, and is characterized by the characteristic symptoms of the enlarged spleen and liver or neurological symptoms such as epileptic seizures.(2) (3)
Diagnosis Of Niemann Pick Disease
Type A And B Niemann Pick Disease: Your doctor will test for blood or bone marrow to measure the amount of ASM in your white blood cells to diagnose Type A and B of Niemann-Pick Disease. This type of examination can help you determine if you or your child have Niemann Pick Disease. DNA testing may also determine if you are a carrier of the disease.(4)
Type C Niemann Pick Disease: A biopsy of skin with a unique stain is normally done to screen for Type C. Once a sample is taken, laboratory analysis finds how your skin cells grow and how they move and store cholesterol. Sometimes DNA testing may also be done.(2)
Treatment For Niemann Pick Disease
Currently, no treatment for type A is known and only supportive therapy is applicable. Various treatment options have been used, including bone marrow transplantation, enzyme replacement therapy, and gene therapy. The research will continue to determine the effectiveness of these treatments.
Niemann-Pick is an uncommon, hereditary illness, affecting the capacity of your body cell’s fat metabolism process. Thus your cells cannot metabolize lipids and cholesterol causing their deposition. Cells die over time and the disease may affect cells of bone marrow, spleen, liver, nerves, brain, and even lungs in severe instances. It is a fatal disorder with no cure or medicines available. Physiotherapy can improve the mobility of patients to some extent for a certain time period.
- Torres S, Balboa E, Zanlungo S, Enrich C, Garcia-Ruiz C, Fernandez-Checa JC. Lysosomal and mitochondrial liaisons in Niemann-Pick disease. Frontiers in physiology. 2017;8:982.
- Vanier MT. Niemann-Pick disease type C. Orphanet journal of rare diseases. 2010;5(1):16.
- Vanier MT. Niemann–pick diseases. Handbook of clinical neurology. Vol 113: Elsevier; 2013:1717-1721.
- Schuchman EH, Desnick RJ. Types a and B Niemann-pick disease. Molecular genetics and metabolism. 2017;120(1-2):27-33.
- Kheder A, Scott C, Olpin S, Hadjivassiliou M. Niemann–Pick type C: a potentially treatable disorder? Practical neurology. 2013;13(6):382-385.
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