Refsum Disease - NORD (National Organization for Rare Disorders) - adult refsum

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adult refsum - Refsum disease causes, symptoms, diagnosis, treatment & prognosis


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.. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa.This disorder affects the retina, the light-sensitive layer at the back of the eye.Vision loss occurs as the light-sensing cells of the. Welcome to the adult Refsum's disease website It contains: Information for patients, their families, and helpers - what adult Refsum's disease is, and what to do if you are affected by it. Clinicians will also find much of interest here, especially the section on Diet for treatment of adult Refsum's disease;. Information for clinicians - more detailed and specialist material.

Refsum Disease, Adult. Search For A Disorder. Clinical Characteristics. Ocular Features: A retinitis pigmentosa-like retinopathy is the major ocular manifestation of this disease. There is typical night blindness and visual field constriction. Rod ERG responses are usually subnormal. Refsum disease is inherited as a recessive trait. The genes responsible for the failure in the metabolism of phytanic acid have been traced to the short arm of chromosome 10 (10pter-p11.2) and the long arm of chromosome 6 (6q22-q24).

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods. Mar 20, 2006 · Refsum disease, also referred to as "classic Refsum disease" (CRD) or "adult Refsum disease" (ARD), is suspected in individuals with late childhood-onset retinitis pigmentosa and variable combinations of the following clinical findings (listed in descending order of frequency):Bookshelf ID: NBK1353.

Other eye pathology can occur in adult Refsum's disease. b. Poor sense of smell. All patients with adult Refsum's disease have a poor sense of smell from a young age. In order to detect this the sensation of smell must be tested appropriately by a suitable medical technique. Jun 08, 2018 · Based on the above, it was proposed that adult Refsum disease could be divided into types 1 and 2, depending on which gene is defective. Thus, Refsum disease, like other peroxisomal diseases, is a heterogeneous syndrome. Recently, a mouse model for Refsum disease (Phyh knockout mouse by targeted disruption of the PHYH gene).

Refsum syndrome. Refsum syndrome also called “classic Refsum disease” or “adult Refsum disease”, is an inherited neurocutaneous syndrome that is characterized by absence of the sense of smell (anosmia) and early-onset retinitis pigmentosa that causes vision loss, which are both universal findings with variable combinations of neuropathy, deafness, ataxia, and ichthyosis 1).