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Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature in a group of patients with merosin-positive congenital muscular dystrophy, where it is generally associated with stable or only slowly progressive weakness and early respiratory insufficiency. Recently, the first locus for congenital muscular dystrophy in association with rigid spine syndrome was mapped to chromosome 1p35-p36 in consanguineous Moroccan, Turkish, and Iranian families. We present here a detailed phenotypic description of the familial syndrome linked to this locus, describing 4 siblings (3 boys and 1 girl) of Northern European-American heritage who are the offsp ring of a nonconsanguineous marriage. All 4 siblings were affected by hypotonia and prominent neck weakness in infancy, early spinal rigidity, and early scoliosis. After initial improvement, muscle strength stabilizes of slowly declines, and skeletal de formities and respiratory insufficiency supervene. |
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chromosome 1
familial
hypotonia
hypotonia,infants
MRI
MRI,muscle
muscle atrophy,progressive
muscular dystrophy
muscular dystrophy,congenital
myopathy
neck weakness
respiratory failure
rigid spine syndrome
scoliosis
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