Jun 26, 2006 this resource is provided as part of an eu grant project researching into adult refsum s disease refsum s disease, diagnosis, prognosis and treatment. Sequence analysis of the pex genes can be performed. Refsum disease genetic and rare diseases information center. Symptoms may include a degenerative nerve disease peripheral neuropathy, failure of muscle coordination ataxia, retinitis pigmentosa a progressive vision disorder, and bone and skin changes. Clinicians will also find much of interest here, especially the section on diet for treatment of adult refsum s disease. Refsum disease, infantile form genetic and rare diseases. Tel 91 05 control of brown rat rattus norvegicus enferjedad a dairy farm in serbia. Diagnosis is mostly clinical and requires exclusion of other systemic or ocular conditions that could present with similar retinal features. Infantile refsum disease in four amish sibs request pdf. However, if diagnosed early, strict adherence to a phytanic acidfree dietary. Information for clinicians more detailed and specialist material.
Tel 91 05 control of brown rat rattus norvegicus enferjedad a. Pdf on dec 1, 2009, angela del socorro franco castro and others published caso clinico. These patients were only considered for gene therapy after there was no hla match for a traditional transplant. Refsum disease genetic and rare diseases information. Pbdzss is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Welcome to the adult refsums disease website it contains. Jan 14, 20 eales disease, first described by the british ophthalmologist henry eales in 1880, is characterized by three overlapping stages of venous inflammation vasculitis, occlusion, and retinal neovascularization. Information for patients, their families, and helpers what adult refsum s disease is, and what to do if you are affected by it. Refsum disease is an inherited condition that causes vision loss, loss of smell. Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. Qlg3ct200200696, by a group of clinicians interested in the subject.
Enfermedades peroxisomales biogenesis del peroxisoma. Refsum disease is characterized by anosmia and earlyonset retinitis. Aldp homodimers are believed to be responsible for the transport of very long chain fatty acids across the peroxisome membrane from the cytosol van roermund et al. Information for patients, their families, and helpers what adult refsums disease is, and what to do if you are affected by it. Treatment of the adrenal insufficiency that can accompany any of the common male phenotypes of ald does not resolve any of the neurological symptoms. Welcome to the adult refsum s disease website it contains. Eales disease was first described by henry eales, a british ophthalmologist, in 1880 and 1882 who thought that it is a noninflammatory condition. This page was last edited on 9 february 2019, at 15. The vision loss associated with refsum disease is caused by an eye disorder called retinitis pigmentosa. Nov 09, 2011 refsum disease is an inherited condition that causes vision loss, loss of smell anosmia, and a variety of other signs and symptoms.
Given their low prevalence, mutations in other pathogenic genes should be investigated after discarding the previous ones. Infantile refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, zellweger syndrome spectrum pbdzss. In recent years, clinical and basic research have provided significant clues to the understanding of the clinical features and etiology of eales. Eales disease current concepts in diagnosis and management. Males who inherit the pathogenic variant will be affected. Files are available under licenses specified on their description page. Refsum disease is characterized by an accumulation of phytanic acid in the plasma and tissues. Allen ginsbergs kaddish, a long poem written about the madness and death of his mother, naomi, if you are looking for the book kaddish and other poems. Both the classical and infantile form of refsum disease mim266500. Clinicians will also find much of interest here, especially the section on diet for treatment of adult refsums disease. Charcotmarietooth disease dejerinesottas disease refsums disease hereditary spastic paraplegia hereditary neuropathy with liability to pressure palsy familial amyloid neuropathy.
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