[Multiminicore disease in a rigid spine syndrome].
The case of a 15 year-old girl, who had difficulties in walking from early childhood is reported. The clinical picture was that of the rigid spine syndrome, spine rigidity being associated with retractions and diffuse amyotrophy of the upper limbs. Histochemical and ultra-structural studies of the muscle showed typical multiminicores. The multiminicore myopathy has not particular clinical features. In the rigid spine syndrome various histological changes can be found. For these reasons, we think that the rigid spine syndrome should be classified within the group of congenital myopathies.
D000293:Adolescent; D003241:Consanguinity; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital*; D010375:Pedigree; D013122:Spinal Diseases / Q000150:complications / Q000151:congenital*
Maladie à multiminicores au cours d'un syndrome de la colonne raide.