Disease Information for Refsum's disease

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Clinical Manifestations
Signs & Symptoms
Adolescent
Skin lesions
Ataxia
Motor and sensory neuropathy/Polyneuropathy signs
Neurologic manifestations/signs
Nystagmus
Progressive neurological disorder/signs
Staggering Gait
Symmetric Polyneuropathy
Unable to tandem walk/straight line
Unsteadiness movement/Gait in a child
Anosmia/Loss of sense of smell
Decreased sense of smell
Walking difficulties
Vision Loss
True Vertigo Sign Confirmed
Clinical Presentation & Variations
Presentation/Progressive Dementia
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Young adult
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Gait disorders
Family history/Deafness
Sex & Age Groups
Population/Adolescent
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
CSF abnormal
Abnormal Lab Findings - Increased
Phytanic acid plasma (Lab)
Associated Diseases & Rule outs
Rule Outs
Peroneal muscular atrophy/Charcot Marie Tooth
Associated Disease & Complications
Blindness
Blindness in Children
Cardiomyopathy
Cataract
Cerebellar ataxia
Congenital Nystagmus
Deafness
Deafness, sensorineural
Developmental neurologic degeneration/child
Hereditary Blindness
Ichthyosis
Leukodystrophy
Neurodevelopmental disorders
Peripheral neuropathy
Pes cavus/High Arched Foot
Polyneuritis
Retinitis pigmentosa
Visual acuity loss
Ataxia Disorder
Demyelinating Disease
Polyneuropathy
Disease Synergy - Causes
Synergy/Diet excess beef/lamb/dairy products
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Deficiency/phytanic acid hydroxylase
Pathophysiology/Gene locus 10pter-p11.2
Pathophysiology/Gene locus 22q11.21
Pathophysiology/Gene locus 6q22-q24
Pathophysiology/Gene locus 7q21-q22
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 22q
Pathophysiology/Gene locus Chromosome 6
Pathophysiology/Gene locus Chromosome 6q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Phytanic acid accumulation/storage
Pathophysiology/Cerebral demyelination
Pathophysiology/Demyelination
Pathophysiology/Hereditary Neuropathy
Pathophysiology/Inherited Biochemical Neuropathy
Pathophysiology/Neurologic degenerative disorder (ex)
Pathophysiology/Peripheral neurologic myelinopathy
Pathophysiology/Peroxisomic Leukodystrophy
Pathophysiolgy/Peroxidase Phytic acid/microsome def
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
PROCESS/Developmental degenerative neurological disorder (ex)
PROCESS/Hereditary ataxia disorder (ex)
PROCESS/Hereditory motor/sensory neuropathy (ex)
PROCESS/Leukodystrophy process (ex)
PROCESS/Myelin involvement/disorder (ex)
PROCESS/Storage disorder/brain (ex)
Synonyms
Synonym
Hemeralopia Heredoataxia Polyneuritiformis, Hered motor sens neuropathy IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY IV, Hereditary motor and sensory neuropathy type IV, Hereditary sensory motor neuropathy type 4, Hereditary sensory motor neuropathy type IV, Hereditary Type IV Motor and Sensory Neuropathy, HEREDITARY TYPE IV MOTOR SENSORY NEUROPATHY, Heredoatax atactica polyneurit, Heredoatax hemeralop polyneuri, Heredoataxia hemeralopica polyneuritiformis, Heredoataxia Polyneuritiformis Hemeralopia, Heredoataxic atactica polyneuritiformis, Heredoataxic hemeralopica polyneuritiformis, Heredopathia atactica polyneur, Heredopathia atactica polyneuritiformis, HMSN IV, HMSN type IV, HMSN4, HSMN IV, Neuropathy Hereditary Motor and Sensory Type IV, NEUROPATHY HEREDITARY MOTOR SENSORY TYPE IV, NEUROPATHY HYPERTROPHIC OF REFSUM, Phytanic acid excess syndrome, PHYTANIC ACID OXIDASE DEFICIENCY, PHYTANIC ACID STORAGE DIS, PHYTANIC ACID STORAGE DISEASE, Phytanic acid storage disease (disorder), Polyneuritiformis Hemeralopia Heredoataxia, Polyneuritiformis Heredopathia Atactica, Refsum, REFSUM DIS, REFSUM DISEASE, Refsum syndrome, Refsum Thiebaut disease, Refsum Thiébaut disease, Refsum Thiebaut Syndrome, REFSUMS DIS, Refsums Disease, Refsum's disease, Refsums Syndrome, Refsum's Syndrome, Syndrome Refsum Thiebaut, Syndrome Refsum's, Synonym/Heredopathia atactica polyneuritiformis, Synonym/Hypertrophic neuropathy of Refsum, Synonym/Phytanic acid storage disease
Treatment
Other Treatments
TX/Diet restriction treatment.
TX/Plasmapheresis/exchange.
Definition

An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY, sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8)

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External Links Related to Refsum's disease
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NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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