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Doctor insights on: Medicine For Niemann Pick Disease

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What is niemann-pick disease like?

What is niemann-pick disease like?

N-P Disease: Niemann–pick disease refers to a group of fatal inherited metabolic disorders. This disease is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases (lsds). ...Read more

Dr. Julie Abbott
5 Doctors shared insights

Niemann Pick Disease (Definition)

Niemann Pick disease is a group of metabolic disorders that are caused by genetic mutations. The disorder is in the lysosomal storage system. Sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick ...Read more


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What exactly is niemann pick disease?

What exactly is niemann pick disease?

N-P Disease: Niemann–pick disease refers to a group of fatal inherited metabolic disorders. This disease is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases (lsds). ...Read more

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How do you know if carrier of niemann-pick disease?

How do you know if carrier of niemann-pick disease?

Testing: Enzymatic and genetic mutation analysis testing through special blood work that your physician can order. ...Read more

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How do you know if a carrier of niemann-pick disease?

Genetic testing: There are genetic tests that are available. If it is a strong concern as a female, you can see genetic counselor before becoming pregnant or if are pregnant. In a male, you can get tested. The testing is not standard because it is rare condition. Be careful about insurance problems if you are tested and come up positive as it now is a flag even though you have no chance of getting the disorder. ...Read more

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What are the common symptoms of niemann-pick disease?

What are the common symptoms of niemann-pick disease?

N-P Disease SYmptoms: Symptoms are related to the organs in which they accumulate. Just a few examples are enlargement of the liver and spleen, unsteady gait, slurring of speech and discoordinated swallowing. Bone marrow cavities may be enlarged and the cortical bone may be thinned. Reduced appetite, abdominal distension and pain as well as thrombocytopenia secondary to splenomegaly. ...Read more

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What is the definition or description of: Niemann Pick disease?

What is the definition or description of: Niemann Pick disease?

Niemann Pick disease: Niemann Pick disease is a group of metabolic disorders that are caused by genetic mutations. The disorder is in the lysosomal storage system. Sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC). ...Read more

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What kind of life does the person with niemann-pick disease have?

What kind of life does the person with niemann-pick disease have?

Neurological issues: Niemann-pick disease is a lysosomal storage disorder wherein the patient cannot degrade sphingomyelin-one of the major lipids of the nervous system. Thus there is build-up in all the cells of the body but most profoundly affecting the nervous system. It affects the cerebellum that leads to balance problems and speech problems. It can also affect the cortex-leading to seizures and cognitive issues. ...Read more

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What type of life style does the person with niemann-pick disease have?

Niemann-Pick is a: Group of 5 genetic metabolic disorders. To know the expected development, health & lifespan of a person with N-P, one must know the type, A through E. If a person in your family has it, please seek specific information from a metabolic geneticist. If not in your family, please be sensitive about asking, ask type A is usually devastating to a family. ...Read more

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Can you tell me how to know if you are a carrier of niemann-pick disease?

See a geneticist: Niemannn-pick disease is autosomal recessive. Thus, both parents would have to be carriers for the child to manifest the disease. Niemann-pick is divided into types a, b, c, d. For types a and b there are dna tests that may be done to detect if one is a carrier. If this is something you are concerned about, a physician that specializes in genetics may be able to direct you to the exact test. ...Read more

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Are there treatments for niemann pick disease?

Clinical trials: Niemann pick is a progressive disease due to metabolic abnormality that leads to the improper degradation of lipids and build-up in the lysosomes. There are different forms. In general, there is no cure at this time. There are clinical trials with medications and bone marrow transplants that have some promise. Nih has some labs directed at basic and clinical research for niemann pick. ...Read more

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What is the treatment for niemann-pick disease?

What is the treatment for niemann-pick disease?

N-P Disease: Treatments for niemann–pick disease are limited with care being mostly supportive. Anecdotally, organ transplant has been attempted with limited success. Future prospects include enzyme replacement and gene therapy. Bone marrow transplant has been attempted for type b. Supportive care through nutrition, medication, physical therapy and being followed by specialists can help with quality of life. ...Read more

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What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

Your genotype: depends on whether you are a carrier of Niemann-Pick Type A, B, C 1, C2, D, E or the rare F. Your OB-GYN will refer you for pre-pregnancy genetic counselling. Gather all medical history possible about your affected family members - onset & clinical presentation of symptoms, clinical course & lifespan. Your insurance will cover molecular genetic testing if you have a documented family history. ...Read more

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What change to the genetic code causes the niemann-pick disease?

Niemann Pick Disease: Is a group of metabolic disorders with autosomal recessive inheritance. Each child of 2 carriers has a 25% chance of inheriting the defective gene from both parents & having the disease. Mutations of the SMPD1 gene on Chromosome 11p.15.4 cause Types A & B. Mutations of the NPC1 gene on Chr. 18q11.2 cause types C1 & D. A mutant NPC2 gene on Chr. 14q24.3, causes Type C2. See nnpdf. Org. For more. ...Read more

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What are the major presenting symptoms of pick disease?

Symptoms of Pick Dis: Symptoms of pick disease are1difficulty in speech and thinking2 behaviour changes and impairment of social contacts3 passivity4 inertia 5 overactivity 6 pacing and wandering
changes in personality makes us differentiate between pick disease and alzeimer disease. ...Read more

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What is the definition or description of: Pick disease?

Frontotemporal: Pick disease is a progressive neurodegenerative disease with dementia associated with frontotemporal areas of the brain being affected; in contrast, Alzheimer disease, typically is associated with entorhinal cortex/hippocampal involvement. The clinical syndromes are somewhat different, with Pick Disease often presenting with behavioral changes, while Alzheimer dementia starts with memory changes. ...Read more

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What is neimann pick disease?

N-P Disease: Niemann–pick disease refers to a group of fatal inherited metabolic disorders. This disease is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases (lsds). ...Read more

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What are the tests for pick disease?

Tests for picks dise: Careful symptomatic evaluation, and brain scans and eeg.These are the only way to diagnose and differentiate it from alzeimer disease. There are mny overlapping symptoms, but symptoms will only set them apart. ...Read more

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What choices do I have for treating pick disease?

Manage symptoms: Pick's disease, a form of fronto-temporal dementia (ftd) is neurodegenerative and has no current cure or way to slow its progression. However symptomatic treatment can reduce maladaptive behaviors. This involves medications, non-pharmacological therapies, environmental manipulations and even emerging technologies. The basic scientific understanding of ftd is undergoing a rapid advance. ...Read more

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What are the symptoms associated with pick disease?

Symptoms of Pick Dis: Symptoms of pick disease are1difficulty in speech and thinking2 behaviour changes and impairment of social contacts3 passivity4 inertia 5 overactivity 6 pacing and wandering
changes in personality makes us differentiate between pick disease and alzeimer disease. ...Read more

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My mom was diagnosed with Pick disease but doing research I see it is similar to Lewy and CJD. Is the life expectancy similar. Worse because bad fall.

My mom was diagnosed with Pick disease but doing research I see it is similar to Lewy and CJD. Is the life expectancy similar. Worse because bad fall.

Archaic terminology: I presume your Mom has progressive cognitive decline, and statistical considerations would include Alzheimer's, vascular and mixed dementias, and perhaps Dementia with Lewy bodies. CJD is a prion infection, and relatively uncommon. You need a second opinion, as the diagnosis you expressed does NOT truly exist, as concepts have changed.? Concierge or INBOX consult to expand on this? ...Read more

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What medicines are use for lou gehrig's disease?

What medicines are use for lou gehrig's disease?

Treatment: It's mostly supportive, but a drug called Riluzole is approved for ALS and it's thought to work by decreasing glutamate mediated motor neuron cell death. ...Read more

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What are the diseases in which prednisolon medicine can be used at its best?

What are the diseases in which prednisolon medicine can be used at its best?

Several: Steroids can be used for back pain (inflammation), some brain/sinal cord injuries with swelling, asthma, COPD (emphysema), dermatitis (contact-posion ivy, etc), certain collagen vascular diseases, etc. Etc. Hope this helps. ...Read more

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Hi. What is the best drugs, pencillamin or trientine for wilson's disease?

Wilson's disease: Check out http://www. Mayoclinic. Com/health/wilsons-disease/ds00411 for info re wilson's disease which is autosomal recessive cause of excess copper. Both Penicillamine & trientine are used to chelate & remove excess copper. There's no best drug for everyone but rather a best drug for you. Talk to your doc about what's available to you, what's affordable, and what side effects are tolerable to you. ...Read more

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Can coeliac disease prevent me from studying medicine?

Can coeliac disease prevent me from studying medicine?

No!!!!!: Many people live with celiac disease and are highly functioning professionals. Strict adherence to a gluten-free diet is crucial. That also means reading labels very carefully. You should shop at the gluten-free section, available in most groceries, be under competent medical supervision. Also see www. Celiac. Nih. Gov/materials. Aspx; www. Celiac. Org/ ...Read more

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What drug is used to treat hodgkin's disease lymphoma?

What drug is used to treat hodgkin's disease lymphoma?

ABVD: Adriamycin (doxorubicin)
Bleomycin
Vinbastine
Dacarbazine

The combination of the 4, all given every 2 weeks for 8 or 12 times depending on the stage of the cancer is the gold standard ...Read more

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Medicine for Lewy body disease?

Medicine for Lewy body disease?

None: Sadly, there is no medicine specifically to help patients and family members of a patient with this problem. It is important to not have prescribed tricyclic anti-depressants, as these can cause a serious reaction. There are some things that can help with specific symptoms. See a neurologist, please. ...Read more

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Medicine on acid peptic disease?

Rescue vs controller: Acid reflux medications, aka heart burn meds, fall into two main groups: rescue meds that quickly neutralize acid, and controllers that block/reduce acid production in the stomach. Antacids like tums, rolaids and maalox are rescue meds. Zantac, Protonix (pantoprazole) and Prilosec are controllers, among others. Talk to your dr about gerd at your next visit. ...Read more

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Is drug dependence a disease or choice?

Is drug dependence a disease or choice?

Good Question: And controversial. Drug dependence starts as a choice to start and can become a disease because it causes impairment in function (the basic definition of disease which itself is hard to define). However it is debatable whether or not it is a disease. There are many opinions. Here is an interesting article: http://www. Ncbi. Nlm. Nih. Gov/pmc/articles/pmc3047254/
best regards. ...Read more

Dr. Michael Gabor
17 Doctors shared insights

Pick Disease (Definition)

A rare condition in which there is a loss of brain function due to abnormal substances inside nerve cells in damaged regions of the brain. The disease progresses slowly. As affected parts of the brain begin to become smaller over time, behavior changes, speech difficulty, and problems ...Read more