Duchenne muscular dystrophy

Abstract

Two-hundred eighty-three boys with Duchenne dystrophy and 10 with Becker dystrophy have been followed for up to 10 years in a protocol that accurately measured their function, strength, contractures, and back curvature. Clinical heterogeneity is noted. Patients whose muscles were stronger were more likely to die from a cardiomyopathy. Weaker patients died from respiratory failure. A series of milestones is defined, which is of use in following the illness in an individual patient. This approach permits a scoring system that allows the severity of the disease to be defined in an individual boy. Evaluation of physical therapy and surgical intervention shows that night splints and scoliosis surgery are effective forms of treatment.

Spinal fusion in patients with Duchenne's muscular dystrophy and a low forced vital capacity

“…Historically, curves of greater than 20-35°have been considered suitable for surgery, as the progression of the curve is associated with a marked decline in respiratory function [2,3,5,7,9,13,15,17,19,21]. In addition, early spinal fusion has been suggested, as by the time the curve is greater than 35°, the FVC is almost always less than 40% PFVC [2,7,16,19,20,21].…”

“…In addition, early spinal fusion has been suggested, as by the time the curve is greater than 35°, the FVC is almost always less than 40% PFVC [2,7,16,19,20,21]. This gives the benefits of a faster procedure with less blood loss, a fuller correction of the scoliosis and a less turbulent post-operative period due to better respiratory function.…”

“…Over the last 20 years, surgical intervention has been advocated as the treatment of choice for DMD scoliosis. The aim of surgery is to maintain the seated posture and balance in these patients, and thus their quality of life [2,3,5,6,7,9,12,13,15,17,18,19,20,21,22,23]. Even though surgery removes the scoliotic contribution to deteriorating vital capacity, it improves neither pulmonary function nor life expectancy [7,10,11,15,19].…”

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

“…Experts could rate an intervention or assess ment tool as "necessary" if it met the following four criteria: (1) intervention or assessment tool was rated "appropriate" without disagreement; (2) it would be improper not to offer the intervention or assessment tool under the clinical scenario proposed; (3) there is a reasonable chance that the intervention or assessment tool will benefit the patient; and (4) the magnitude of the expected benefit is not small. 35 See webappendix for examples of matrices, analyses, and results.…”

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

“…Briefly, DMD is caused by deletions and other mutations in the dystrophin (also known as DMD ) gene that abrogate the mRNA reading frame and prevent expression of dystrophin protein. As a result, affected newborn boys experience severe, progressive neuromuscular impairment starting in early childhood,5 typically lose ambulation in their midteens, and succumb to respiratory failure or cardiomyopathy by their mid‐20s 3, 6, 7, 8. Eteplirsen‐induced skipping of exon 51 restores the mRNA reading frame, allowing production of an internally deleted but functional dystrophin protein.…”