NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IV
\njuːɹˈɒpəθɪ], \njuːɹˈɒpəθɪ], \n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ]\
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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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Nearby Words
- neuropathogenesis
- neuropathology
- neuropathy
- neuropathy of tangier disease
- neuropathy, hereditary and autonomic, type iii
- Neuropathy, Hereditary Motor and Sensory, Type IV
- neuropathy, type i hereditary motor and sensory
- neuropathy, type ii hereditary motor and sensory
- neuropeptide
- neuropeptide phi 27
- neuropeptide receptor