Current and future therapy in muscular dystrophy; need for a common language between basic scientists and clinicians.

Abstract

This paper reviews the current therapy of Duchenne dystrophy, with the only two effective means of prolonging ambulation being the provision of knee-ankle-foot orthoses, and administration of corticosteroids, and the prospects, for the future application in Duchenne dystrophy, of ongoing research in cell therapy, gene therapy, protein upregulation and pharmacological possibilities. A critical review is also provided on the inappropriate nomenclature currently used and the need for a common language between basic and clinical scientists. Amongst the major problems are equating the mdx mouse, with its mild clinical phenotype, and Duchenne dystrophy, with its clearly defined severe clinical phenotype; the use of inappropriate and often emotive terminology to describe the pathological changes, such as "rescue", "reversal", "prevention", in place of describing the actual changes in acceptable descriptive language; and the use of the term therapy, in place of experiments, both in the basic laboratory studies and also the clinical experiments of injection of cells or gene constructs into single small muscles. A missing link in the multidisciplinary efforts, in this field, is the almost total absence of mouse doctors, who can define, at a clinical level, the motor, respiratory and cardiac deficits in the dystrophic animal, and bridge the gap between the mouse scientists doing experimental studies in the laboratory and the clinicians and veterinarians involved in the care of humans and dogs with these disorders and speaking the same language in relation to the clinical aspects and the pathology.