Abstract
Two half-sisters aged 14 and 18 years are described with a rigid spine syndrome as the cardinal clinical feature of an autosomal dominant neuromuscular disorder. Ten years previously, a diagnosis of multicore disease had been made from the clinical signs and muscle biopsy findings. Long term follow-up revealed a non-specific muscular dystrophy with axial predominance and a rigid spine in the younger girl; the older sister presented at the age of 18 with a rigid spine as the only myopathic sign. Computed tomography of the muscles showed severe involvement of the paraspinal musculature, in contrast with either less or no involvement of the other muscles.
Highlights
Further clinical progression unexpectedly occurred in the summer of 1982: she presented with diffuse and substantial muscle atrophy; the musculature of the trunk and the extremities was diffusely paretic (MRC grade 4), and even more severe weakness (MRC grade 3) was noted in the neck flexors and the foot extensors
The rigid spine syndrome was initially described as a distinct clinical entity[1 2] but there is increasing evidence that it is merely a cardinal feature of various neuromuscular disorders.[424]
It was striking that the younger girl initially presented both clinically and pathologically as a patient with multicore disease. This was thought to be confirmed by the presence of identical cores in the muscles of her asymptomatic older sister and her mother. Her apparently quiescent muscular deficit deteriorated into a dystrophic picture when she was 10 years old and she eventually corresponded to the criteria of congenital muscular dystrophy.[26]
Summary
SUMMARY Two half-sisters aged 14 and 18 years are described with a rigid spine syndrome as the cardinal clinical feature of an autosomal dominant neuromuscular disorder. Long term follow-up revealed a non-specific muscular dystrophy with axial predominance and a rigid spine in the younger girl; the older sister presented at the age of 18 with a rigid spine as the only myopathic sign. Muscle biopsy findings are variable and depend on the site of biopsy: the paraspinal musculature frequently reveals severe dystrophic myofibrosis,[3 4 14 15 23] whereas muscle biopsy findings in the extremities may vary, ranging from normal to aspecific changes such as fibre type predominance or muscle dystrophy.[9 13 17 21 22 24] We describe two half-sisters who were thought initially to have a non-progressive autosomal dominant multicore myopathy. The diagnostic contribution of CT scanning of the muscles is stressed, as this appears not to have been mentioned in previous reports of this syndrome
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