Niemann-Pick disease

Niemann-Pick disease basal

Last Updated December 20th, 2021

Overview of Niemann-Pick disease

In the recent years, the statistics of Global Genes have shown that there are nearly 7000 rare diseases in the world and an estimated 300 million people live with those diseases. They have also established the fact that 6% of the babies are born with rare genetic diseases and about 30% of them die before the age of five.

A large number of these diseases are caused by autosomal recessive or dominant genetic traits. Niemann-Pick is one such disease where neurological and hepatic syndromes are observed. Children usually die from the disease at a very young age, in the toddlerhood in most cases. A few people with the disease tend to have a normal lifespan.

 

What is Niemann-Pick disease?

Niemann-Pick disease is a collective name for a group of inherited metabolic disorders which results in hepatic and neurological syndromes. Diagnoses of these patients have shown an accumulation of sphingomyelin in the lysosomes of the cells. Abnormal metabolism of the sphingolipids occurs in this disease. Sphingolipids are nothing but the fats present in the cell membranes. So this condition is often termed as sphingolipidosis, which is one of the major diseases belonging to the category of Lysosomal storage diseases.

 

What causes Niemann-Pick disease?

Niemann-Pick disease is inherited in an autosomal recessive pattern. This implies that both copies of the inherited genes should be defective for the disease to manifest fully. The disease primarily arises due to mutations in the SMPD-1 gene. If both the parents are the carriers of Niemann-Pick, there is a 25% chance of the disease getting passed on to the next generation.

 

What are the main signs and symptoms?

Niemann-Pick spleenNiemann-Pick disease mainly presents with hepatic, neurological and skeletal symptoms. The symptoms basically are manifested in those organs where the sphingomyelin accumulates.

Hepatic symptoms  

The patients may exhibit the following hepatic symptoms-

When these clinical features persist for a long period of time, the following symptoms may also arise-

  • Yellowish discoloration of the skin
  • Sclera, conjunctiva and mucosa turns pale yellow (in advanced stages)
  • Dark yellow or brownish discolouration of urine
  • Dark stool
  • Irritation of skin
  • Severe loss of appetite
  • Abnormal weight loss in advanced stages
  • Extreme fatigue
  • Occasional pain in the upper right portion of stomach
  • Nausea and vomiting
  • Occasional headaches
  • Fever (occasional)

Neurological symptoms

Niemann-Pick disease basalThe neurological symptoms mainly arise from the build-up of sphingomyelin in the central nervous system and the cerebellum. The following neurological symptoms are observed-

Ataxia: This results in an abnormal gait. Following are the main features-

  • Unstable gait
  • Abnormal posture (while standing)
  • Fumbling steps
  • Prominent trembling (intention tremor)
  • Problems in writing
  • Slurred speech (dysarthria)
  • Cannot perform very fast and alternating movements
  • Problems judging distances or range of movements
  • Loss of check reflex (rebound phenomenon)
  • Heavy strikes during walking
  • Lack of equilibrium

Dysarthria: This presents as unclear and poorly formed speech. The symptoms are-

  • Slurred speech
  • Prolongation of certain syllables while talking
  • Breathy or husky voice
  • Random breakdown of articulation
  • A monotonous pitch with no modulation
  • Absence of pauses within speech
  • An abnormal nasal tone (hypernasality)

Dysphagia: It is a condition marked by a difficulty in swallowing. The main signs are-

  • Problems in controlling the food content in the mouth
  • Lack of capacity to control the salivary content inside the mouth
  • Not being able to begin swallowing at one go
  • Tendency of coughing and choking while swallowing food
  • Feeling of cervical obstruction while swallowing
  • Pain during swallowing food
  • Unexplained wetness of voice after swallowing food
  • Nasal regurgitation

Dystonia: It is a muscular disorder characterised by the following symptoms-

  • Painful and involuntary twisting of the neck
  • Head pulled near to the chest
  • Involuntary eye-spasms (Blepharospasms)
  • Problems in tongue and jaw movements
  • Difficulties in voice modulation
  • Problems in moving the hands and the arms
  • Sudden loss of muscle tone while laughing or talking (Gelastic cataplexy)

Some of the other neurological symptoms are- loss of voluntary eye movements, also called supranuclear gaze palsy. This results from the dysfunctions of the upper brainstem. Some patients may experience dementia and seizures when the cerebral cortex and the subcortical structures suffer damage.

Skeletal symptoms

A number of Niemann-Pick patients suffer from multiple skeletal symptoms which are given below-

  • Enlargement of the bone marrow cavities
  • Thinning of the cortical bone
  • Distortions of the hip bone (coxa vara)

 

What are the different types of Niemann-Pick disease?

According to the inheritance pattern and the manifestation of the symptoms, Niemann-Pick disease is of four types-

  • Type A: It results from the mutations in the SMPD1 gene. This results in a reduced activity of the lysosomal enzyme acid sphingomyelinase, which is responsible for the breakdown of the lipid sphingomyelin. This leads to classic infantile symptoms. Histological evidence show lipid-laden macrophages in the bone marrow and sea-blue histiocytes.
  • Type B: The etiology is the same as that of Type A, but visceral symptoms are observed in this case.
  • Type C: This affects the protein responsible for transporting the lipids. It is a type of juvenile Niemann-Pick disease and has two subtypes- Type C1 and Type C2. C1 is the common form, while C2 is a relatively rare variant.
  • Type D: The patients in this category are found to share a common mutation in the NPC1 gene.

 

Diagnosis,  treatment, & prevention

Niemann_pick neuronNiemann-Pick disease can be detected through genetic tests. In the current scenario, there is no cure for the Niemann-Pick disease. The treatment is mainly supportive and aims to provide symptomatic relief.

  • Type A: Most of the children die in infancy. Some of them live up to the age of 4 years. There is no treatment for NPA. Only supportive care can be rendered.
  • Type B: Research is going on to establish definitive treatment options for NPB. Several treatment modalities that have been tried are enzyme replacement therapy, bone marrow transplants, gene therapy etc. Restriction on the diet does not help in preventing the accumulation of lipids in cells and tissues.
  • Type C: In order to cope up with mobility issues, physical therapy can be chosen. In order to prevent the build-up of fatty substances (such as cholesterol) in the body, an enzyme inhibitor called miglustat is currently being used. Miglustat prevents the body from producing fatty substances.

Families, who have carriers of the Niemann-Pick Disease, are advised to undergo genetic counseling and genetic testing in order to prevent this condition in the future generations. Genetic counseling for couples having a family history is worthwhile.

 

Dos and Don'ts

Dos
  • Visit your doctor if you see symptoms such as dementia, seizures, psychiatric disorders, mental retardation, lung problems peripheral nerve problems, poor coordination etc.
  • Maintain hygiene so as to prevent infections as the child is susceptible to infections on the account of a compromised immune system.
  • Consult a registered general physician and contact support groups. This might help you to learn ways to manage the complications of the disease in a better manner.
Don'ts
  • Get annoyed, irritated or impatient, with children having mental retardation or learning disorders.
  • Miss the follow-up sessions of doctors, physical therapists, psychiatrists etc.

 

 

 

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Jack in the box fast food
Jack In the Box : The perils of surging fast food culture in the USA Jack in the Box - How a culture of fast-food can clog your arteries, weaken your heart, fatten…
Tart Cherry: The healthiest excuse for taking that second serving of pie Tart cherry has been traditionally used in delectable desserts such as pies. Recent studies have revealed that its…
Creatine: Is this the right peak athletic-performance supplement for you? Creatine is the amino acid that boosts our energy. Did you know creatine supplements can help you reach…
Did you know vitamin E can fight these fatal diseases? Vitamin E, an essential fat-soluble vitamin, is key to building strong immunity, for healthy eyes, and skin. It…
Vitamin b12
Vitamin B12 Test Vitamin b12 is an essential nutrient required for healthy functioning of the nervous system and also development of…
PULMONARY EMBOLISM
IVC Filter Implantation IVC or inferior vena cava implantation is a minimally-invasive procedure to arrest blood clots and prevent them from…
Cellphones and Human Brain
Cellphones and Human Brain – Are Cellphones a Slow Poison to Our Brains? Cellphones have become an intricate part of our lives but they can be highly addictive and overuse can…
Coffee Enema: Turn your favorite morning beverage into a powerful colon cleanser The wonders of coffee are not just limited to waking you up every morning. You can now use…
Dragon Fruit – Blessing from Nature’s Basket Dragon fruit is packed with nutrients but low on calories. It is the dream food that can help…
Hysteroscopy_procedure
Hysteroscopy Hysteroscopy is a minimally invasive tool to help specialists view the uterus to diagnose and even treat several…
How seitan proved to be a blessing in disguise for vegans worldwide Can only meat-eaters enjoy delicious juicy steaks and burgers? With seitan, the best meat substitute available today,even vegans…
Threatened abortion
A few facts about threatened abortion A threatened miscarriage indicates an early pregnancy loss. Look out for symptoms like bleeding, vaginal discharge, and pain.
Rheumatoid Arthritis xray
Arthritis Profile Arthritis profile is a panel of primarily blood tests used to detect the presence of arthritis or check…
Splenda
Splenda Splenda is an artificial sweetener derived from Stevia plant extracts. It is low in calories and a popular…
Surgery or home-remedy; what is the right way to treat a burn The treatment of a burn injury depends on its severity. You can save a life by offering the…
Bubble Tea: Bubbling with nutrition or a hidden sugar mine? The tapioca pearls present in the tea looks like bubbles and hence the name bubble tea became popular.…
Juice Plus: Can you really replace actual fruits with pills?  Juice Plus supplements intend to fill nutritional gaps present in our daily diet. But how successful have they…
black seed oil benefits
Black Seed Oil: What secret benefits could it bestow on your health? Black seeds or nigella seeds are tiny packets of health brimming with amazing benefits. Find out why should…
improve digestion weight loss
Power up your gut: 8 proven steps on how to improve your digestion Did you know you have a colony of bacteria in your gut that help you in digesting food?…
Aphasia brain scans
Neuroendoscopy Neuroendoscopy is a minimally-invasive surgery used to treat disorders of brain, spine, head, etc.
anoscopy
Anoscopy Anoscopy is an invasive diagnostic procedure where a small device known as anoscope will be inserted in the…
shiitake mushrooms healthy
What are Shiitake Mushrooms and why should you eat them? Shiitake Mushrooms are well known for their smoky and robust taste. However, did you know they are replete…
Pelvic_ultrasound
Pelvic Ultrasound Pelvic ultrasound is a process where sound waves are used to create image of your pelvic region organs…
Vitamin K2: 8 reasons why you need this bone-building & cancer-fighting nutrient Vitamin K2 is claimed to be essential for your bone health, for reducing the risk of cancer, and…
blood elements analysis
Blood Element Analysis Test A blood element analysis is a blood test performed to measure the level of toxic elements such as…
gallbladder diet tomato
Gallbladder surgery :Tips on post-operative care and diet What to eat post a gallbladder surgery? What are the key things to avoid if you had a…
angiography
Angiography Angiography is a diagnostic tool used to determine the narrowing or blockage in the arteries and veins supplying…
Proteinuria and blood pressure
Hypertension Profile Hypertension profile is a panel of blood tests done to analyse the cause of hypertension or high blood…
antiHEV IgM test
Anti hepatitis E virus (Anti HEV) IgM Test Anti HEV IgM test determines the level of the IgM antibodies in the blood, The disease is often…
breast-surgery-2
Breast Augmentation Breast augmentation is a surgical procedure done to alter the shape and size of the breast. It uses…
Low carb diet
8 appetizing and mouth-watering recipes that every low-carb dieter should try Looking for delicious recipes that will fix your hunger pang without adding those pesky carbs? Look no further…
These are the top foods to increase your hemoglobin count It is important to add iron-rich foods into your diet in order to increase hemoglobin. Deficiency of hemoglobin could…
Inversion Therapy: The anti-gravity way of healing chronic back pain Inversion therapy involves suspending a person upside dow using different types of equipment. This works by taking the…

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