Refsum Disease

Refsum Disease, Infantile
This disorder probably should not be called Refsum disease since it is entirely different in onset, course, and symptoms compared with the adult disorder of the same name.

NINDS Refsum Disease Information Page
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What is Refsum disease?
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.

refsum disease
medical dictionary
A chronic progressive peripheral neuropathy which is probably inherited in an autosomal recessive manner.

Infantile Refsum Disease; Isorhythmic Dissociation
OSIRIS
Open Study Of Infants At High Risk Or With Respiratory Insufficiency: The Role Of Surfactants; Optimization Study Of Infarct Reperfusion Investigated By ST-Monitoring ...

Refsum Disease
Refsum Disease
Regional Anesthesia
Regional Enteritis
regulation with Neural Tumor
Rehabilitation Programs for Low Back Problems
Rehabilitation programs for multiple sclerosis
Reifenstein Syndrome ...

Refsum Disease
Regional Enteritis
regulation with Neural Tumor (ROHHAD-NET)
Rehabilitation programs for multiple sclerosis
Reifenstein Syndrome
Reiger Anomaly-Growth Retardation
Reiki
Reimann Periodic Disease
Reimann's Syndrome ...

Refsum Disease
regadenoson - Medication
Regional Anesthesia
Regional Enteritis
Reglan - Medication
Regranex - Medication
regulation with Neural Tumor
Reguloid - Medication
Rehabilitation Helpline - Support Group ...

Encephalopathies, Anoxic-Ischemic, env Protein, Exostoses, Familial, Fractures, Zygomatic, Herpes Labialis, Hydranencephaly with Proliferetive Vasculopathy, Hyperostosis Syndromes, Acquired, Immunoglobulins, J Chain, Infantile Refsum Disease, ...

Alport syndrome manifests with hearing loss, progressive nephritis, and macular flecks that may be misinterpreted as RP, while Refsum disease presents with anosmia, deafness, and true RP (Hamel, 2006).

Retinitis pigmentosa is also associated with a variety of inherited genetic syndromes, for example Usher syndrome (associated deafness) and Refsum disease (associated unsteadiness, peripheral nerve damage and deafness).

Disease, phytanic acid storage: See Refsum disease.
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Pelizaeus-Merzbacher disease
Canavan disease
Childhood ataxia with central nervous system hypomyelination (CACH, also called vanishing white matter disease)
Alexander disease
Refsum disease
Cerebrotendinous xanthomatosis ...

Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, ...

See also: Dystrophy, Symptom, Blindness, Ataxia, Leukodystrophy