Adult Refsums Disease

This disease presents in adulthood, but earlier onsets are not uncommon. Cardinal clinical features are slowly progressive sensorimotor neuropathy, retinitis pigmentosa, optic atrophy, ichthyosis of the skin and, later in the course, cerebellar ataxia. Additional features are cardiomyopathy, anosmia, and neuronal hearing impairment. Skeletal anomalies and cutaneous changes may occur.

The major biochemical defect is deficient a-oxidation of phytanic acid due to deficiency of the enzyme phy-tanoyl coenzyme A-hydroxylase (PHYH). The PHYH gene maps to chromosome 10.

Early diagnosis, by demonstrating elevated phytanic acid in plasma and deficiency of enzyme PHYH, is important. Dietary therapy eliminating dairy products and ruminant fats results in improvement, whereas undiagnosed cases have a poor prognosis.

The pathology of the peripheral nerves consists of a loss of myelinated fibers and axons, onion-bulb formations, and paracrystalline inclusions in Schwann cells.

Peripheral Neuropathy Natural Treatment Options

Peripheral Neuropathy Natural Treatment Options

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