About The Medical Condition Hereditary-Motor and Sensory-Neuropathy Type IV
Find the definition of the medical term Hereditary-Motor and Sensory-Neuropathy Type IV. Hereditary-Motor and Sensory-Neuropathy Type IV defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hereditary-Motor and Sensory-Neuropathy Type IV
Hereditary-Motor and Sensory-Neuropathy Type IV Medical Condition |
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What's The Definition Of The Medical Condition Hereditary-Motor and Sensory-Neuropathy Type IV?
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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