AMP deaminase deficiency (myoadenylate deaminase) . Disease or syndrome?
Serratrice, G.; Pellissier, J.F.; Aquaron, R.; Pouget, J.
Revue du Rhumatisme et des Maladies Osteo-Articulaires 53(12): 673-676
1986
ISSN/ISBN: 0035-2659 PMID: 3823775 Document Number: 277536
Two recent publications have shown the advantage of understanding the deficit in AMP desaminase in rheumatology. On this subject, the authors report 4 cases of deficit in AMP desaminase. The first one includes a semiology made of pain, and stiffening, the second case is discovered in the course of a primary muscular disease. The third case is present during the first stage of a spinal cord compression. The fourth case is a muscular deficit accompanied with a histological picture of inflammation, considered initially as a chronic polymyositis, but explained secondarily as a pseudo-polymyositis form of facio-scapulo-humeral dystrophy. In this respect, the cases from the literature are divided into three groups: asymptomatic, infraclinical forms, forms occurring in the course of specific diseases (muscular diseases, spinal cord diseases, inflammations of the connective tissues, metabolic diseases), apparently isolated forms. In the latter, emerges a semiology made of pain, cramps, stiffening of the lower extremities occurring on exertion. However, the specificity of the symptoms remains to be discussed.