The rigid spine syndrome in two sisters.
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.
Vanneste
J A
JA
Department of Neurology, Sint Lukasziekenhuis, Amsterdam, The Netherlands.
Augustijn
P B
PB
Stam
F C
FC
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D007738:Kyphosis / Q000235:genetics; D008141:Lordosis / Q000235:genetics; D009127:Muscle Rigidity / Q000235:genetics*; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics; D009468:Neuromuscular Diseases / Q000235:genetics*; D013122:Spinal Diseases / Q000235:genetics*; D014057:Tomography, X-Ray Computed