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We report on a family in which both Werdnig-Hoffmann disease(severe infantile-onset spinal muscular atrophy)and chronic distal spinal muscular atrophy occurred,with apparent autosomal dominant inheritance.The female proband clinically had Werdnig-Hoffmann disease and died at ten months.In their short decade of life,the proband's father and his two brothers developed bilateral progressive atrophy and weakness in the distal parts of the legs.Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs.While the family studies suggest autosomal dominant inheritance,it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait. |
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