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What is Infantile Refsum Disease?

What is Infantile Refsum Disease?

  • Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.

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)

Infantile Refsum Disease: Introduction

Types of Infantile Refsum Disease:

Broader types of Infantile Refsum Disease:

Who gets Infantile Refsum Disease?

Patient Profile for Infantile Refsum Disease: Infancy; symptoms begin early.

Profile for Infantile Refsum Disease: Onset of the disorder begins in early infancy. (Source: excerpt from NINDS Infantile Refsum Disease Information Page: NINDS)

How serious is Infantile Refsum Disease?

Prognosis of Infantile Refsum Disease: Poor. Typically death before age 20.
Prognosis of Infantile Refsum Disease: The prognosis for individuals with infantile Refsum disease is poor. Death generally occurs in the second decade of life. (Source: excerpt from NINDS Infantile Refsum Disease Information Page: NINDS)

What causes Infantile Refsum Disease?

Causes of Infantile Refsum Disease: see causes of Infantile Refsum Disease
Cause of Infantile Refsum Disease: Absence of absence of peroxisome cells in the body.

What are the symptoms of Infantile Refsum Disease?

Symptoms of Infantile Refsum Disease: see symptoms of Infantile Refsum Disease

Can anyone else get Infantile Refsum Disease?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Infantile Refsum Disease: Testing

Diagnostic testing: see tests for Infantile Refsum Disease.

Misdiagnosis: see misdiagnosis and Infantile Refsum Disease.

How is it treated?

Treatments for Infantile Refsum Disease: see treatments for Infantile Refsum Disease
Research for Infantile Refsum Disease: see research for Infantile Refsum Disease

Organs Affected by Infantile Refsum Disease:

Organs and body systems related to Infantile Refsum Disease include:

Name and Aliases of Infantile Refsum Disease

Main name of condition: Infantile Refsum Disease

Class of Condition for Infantile Refsum Disease: genetic

Other names or spellings for Infantile Refsum Disease:

Infantile Phytanic Acid Storage Disease, Refsum Disease (Infantile)

Infantile form of phytanic acid storage disease, Refsum disease, infantile form, IRD
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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


 » Next page: Prevalence and Incidence of Infantile Refsum Disease

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