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Infantile Refsum Disease

Infantile Refsum Disease: Introduction

Infantile Refsum Disease: Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the ... more about Infantile Refsum Disease.

Infantile Refsum Disease: Genetic disease affecting nerve and muscle control. More detailed information about the symptoms, causes, and treatments of Infantile Refsum Disease is available below.

Symptoms of Infantile Refsum Disease

Treatments for Infantile Refsum Disease

Home Diagnostic Testing

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Wrongly Diagnosed with Infantile Refsum Disease?

Causes of Infantile Refsum Disease

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Disease Topics Related To Infantile Refsum Disease

Research the causes of these diseases that are similar to, or related to, Infantile Refsum Disease:

Infantile Refsum Disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Infantile Refsum Disease

Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even absent symptoms. Although the most common symptoms are more »

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 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 more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be over-diagnosed ( more »

Rare type of breast cancer without a lump: There is a less common form of breast cancer called inflammatory breast cancer. Its symptoms can be an inflammation of the breast tissue, such as with a breast rash with redness and warmth, more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood pressure. The "cuff" 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 those causing a mild 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 the 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 disease 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 occur in more »

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

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

Infantile Refsum Disease: Research Doctors & Specialists

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Hospitals & Clinics: Infantile Refsum Disease

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Choosing the Best Hospital: More general information, not necessarily in relation to Infantile Refsum Disease, on hospital performance and surgical care quality:

Infantile Refsum Disease: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Infantile Refsum Disease

Medical research articles related to Infantile Refsum Disease include:

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

Infantile Refsum Disease: Animations

Prognosis for Infantile Refsum Disease

Prognosis for Infantile Refsum Disease: Poor. Typically death before age 20.

Research about Infantile Refsum Disease

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Statistics for Infantile Refsum Disease

Infantile Refsum Disease: Broader Related Topics

Infantile Refsum Disease Message Boards

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User Interactive Forums

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Article Excerpts about Infantile Refsum Disease

Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -- which acts as an insulator -- on nerve fibers in the brain. (Source: excerpt from NINDS Infantile Refsum Disease Information Page: NINDS)

Definitions of Infantile Refsum Disease:

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


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