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Niemann-Pick disease

Niemann-Pick disease: Introduction

Niemann-Pick disease: In 1914, German pediatrician Albert Niemann described a young child with brain and nervous system impairment. Later, in the 1920's, Luddwick Pick studied tissues after ... more about Niemann-Pick disease.

Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body. More detailed information about the symptoms, causes, and treatments of Niemann-Pick disease is available below.

Symptoms of Niemann-Pick disease

Home Diagnostic Testing

Home medical testing related to Niemann-Pick disease:

Wrongly Diagnosed with Niemann-Pick disease?

Niemann-Pick disease: Related Patient Stories

Niemann-Pick disease: Deaths

Read more about Deaths and Niemann-Pick disease.

Types of Niemann-Pick disease

  • Niemann-Pick type A - infant disease with poor prognosis
  • Niemann-Pick type B - juvenile form
  • Niemann-Pick type C - subtype with brain complications
  • Niemann-Pick type D - same as Type C but with Nova Scotia ancentral cause
  • more types...»

Niemann-Pick disease: Complications

Review possible medical complications related to Niemann-Pick disease:

Causes of Niemann-Pick disease

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More information about causes of Niemann-Pick disease:

Disease Topics Related To Niemann-Pick disease

Research the causes of these diseases that are similar to, or related to, Niemann-Pick disease:

Niemann-Pick disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Niemann-Pick disease

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was initially...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer's disease, it...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), for which...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see ...read more »

Niemann-Pick disease: Research Doctors & Specialists

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Niemann-Pick disease: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Niemann-Pick disease

Medical research articles related to Niemann-Pick disease include:

Click here to find more evidence-based articles on the TRIP Database

Niemann-Pick disease: Animations

Prognosis for Niemann-Pick disease

Prognosis for Niemann-Pick disease: Patients with type A die in infancy. Type B patients may live a comparatively long time, but many require supplemental oxygen because of lung involvement. The life expectancies of patients with types C and D are quite variable. Some patients die in childhood while others who appear to be less drastically affected live into adulthood. (Source: excerpt from NINDS Niemann-Pick Disease Information Page: NINDS)

Research about Niemann-Pick disease

Visit our research pages for current research about Niemann-Pick disease treatments.

Clinical Trials for Niemann-Pick disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Niemann-Pick disease include:

Statistics for Niemann-Pick disease

Niemann-Pick disease: Broader Related Topics

Niemann-Pick disease Message Boards

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User Interactive Forums

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Article Excerpts about Niemann-Pick disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

In 1914, German pediatrician Albert Niemann described a young child with brain and nervous system impairment. Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of a new disorder, distinct from those storage disorders previously described. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Niemann-Pick Disease Information Page: NINDS (Excerpt)

Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. (Source: excerpt from NINDS Niemann-Pick Disease Information Page: NINDS)

Definitions of Niemann-Pick disease:

A disorder of lipid metabolism that is inherited as an autosomal recessive trait - (Source - WordNet 2.1)

Niemann-Pick disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Niemann-Pick disease, or a subtype of Niemann-Pick disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

 

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