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Werdnig‐Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance
Author(s) -
Boylan Kevin B.,
Cornblath David R.
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410320318
Subject(s) - proband , spinal muscular atrophy , medicine , atrophy , progressive muscular atrophy , weakness , denervation , disease , autosomal recessive inheritance , motor neuron , electromyography , pediatrics , pathology , anatomy , physical medicine and rehabilitation , amyotrophic lateral sclerosis , genetics , biology , mutation , gene
We report on a family in which both Werdnig‐Hoff‐mann disease (severe infantile‐onset spinal muscular atrophy) and chronic distal spinal muscular atrophy ocurred, with apparent autosomal dominant inheritance. The female proband clinically had Werdnig‐Hoffmann disease and died at 10 months. In their second decade of life, the proband's father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and mild 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.