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CMD Congenital muscular dystrophies
LGMD Limb-girdle muscular dystrophies
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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 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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