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Dominant congenital benign spinal muscular atrophy
Author(s) -
Frijns C. J. M.,
van Deutekom J.,
Frants R. R.,
Jennekens F. G. I.
Publication year - 1994
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880170210
Subject(s) - arthrogryposis , spinal muscular atrophy , arthrogryposis multiplex congenita , medicine , muscle contracture , sma* , congenital myopathy , lower motor neuron , weakness , anatomy , pathology , pediatrics , motor neuron , disease , muscle biopsy , biopsy , mathematics , combinatorics
The affected members of the family described in this article exhibit congenital nonprogressive atrophy and weakness of lower limb muscles in association with contractures. Clinical and laboratory findings support a dominant lower motor neuron disorder. DNA analysis excluded linkage of the disease with SMA markers on the long arm of chromosome 5. The condition must be differentiated from congenital and infantile SMA, from “arthrogryposis multiplex congenita, distal type,” and from non hereditary types of congenital arthrogryposis. © 1994 John Wiley & Sons, Inc.