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INAD infantile neuroaxonal dystrophy
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CMD Congenital muscular dystrophies
INAD Infantile neuroaxonal dystrophy
LGMD Limb-girdle muscular dystrophies
NAD Neuroaxonal dystrophy
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neuroaxonal dystrophies Encephalopathies characterised by swelling in distal portions of axons (speroids) often with axonal degeneration. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy (seitelberger's disease) is an autosomal recessive trait characterised by arrested psychomotor development at 6 months to 2 years followed by ataxia, brainstem signs, optic atrophy, and quadriparesis. Hallervorden-spatz syndrome, which usually first appears at 7 to 12 years of age, may be genetically related to the infantile syndrome.
(12 Dec 1998)
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corneal dystrophies, hereditary Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
(12 Dec 1998)
neuroaxonal dystrophy A rare disorder that begins in the second year of life and is relentlessly progressive; clinically characterised initially by walking difficulties, weakness, and areflexia, later followed by corticospinal and pseudobulbar findings, blindness, loss of pain appreciation, and mental deterioration; pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nuclei; autosomal recessive inheritance.
(05 Mar 2000)
infantile neuroaxonal dystrophy <neurology, paediatrics> A rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, Babinski sign, hypotonia and progressive blindness. Pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nervous system nuclei.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Neuroaxonal Dystrophies - »õâ A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
    Synonyms : Adult Neuroaxonal Dystrophy, Infantile Neuroaxonal Dystrophy, Juvenile Neuroaxonal Dystrophy, Late Infantile Neuroaxonal Dystrophy, Neuroaxonal Dystrophy, Adult, Neuroaxonal Dystrophy, Infantile, Neuroaxonal Dystrophy, Late Infantile, Disease, Seitelberger's
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