Symptoms of Infantile Refsum Disease

General information about symptoms of Infantile Refsum Disease: The symptom information on this page attempts to provide a list of some possible symptoms of Infantile Refsum Disease. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Infantile Refsum Disease. Furthermore, symptoms of Infantile Refsum Disease may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Infantile Refsum Disease.

List of symptoms of Infantile Refsum Disease: The list of symptoms mentioned in various sources for Infantile Refsum Disease includes:

Symptoms of Infantile Refsum Disease: Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). ¹

More symptoms of Infantile Refsum Disease: In addition to the above information, to get a full picture of the possible symptoms of this condition and its related conditions, it may be necessary to examine symptoms that may be caused by complications of Infantile Refsum Disease, underlying causes of Infantile Refsum Disease, associated conditions for Infantile Refsum Disease, risk factors for Infantile Refsum Disease, or other related conditions.

Medical articles on symptoms: These general reference articles may be of interest:

Footnotes:
1. excerpt from NINDS Infantile Refsum Disease Information Page: NINDS

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