We reviewed the incidence and severity of scoliosis in 37 patients with the intermediate type and 26 with the mild type of spinal muscular atrophy. In the intermediate type, scoliosis has an early onset and rapid progression before puberty, and a spinal fusion will be needed in virtually all cases. This rapid progression occurred despite routine use of a spinal brace. Hip dislocation was frequently present but, in most cases, was secondary to the pelvic tilt and did not contribute to the scoliosis. In the mild type, the scoliosis was more variable. In the 30% of patients who had scoliosis, progression was rapid during puberty but only in those who had lost ambulation. Of the four children with the intermediate type and the seven with the mild type who walked in light-weight orthoses, progression of scoliosis was slow, except in those who had lost ambulation. The ultimate effect of walking in orthoses is difficult to assess because of small numbers, but it seems to slow or at least delay progressive scoliosis.

Ultrasound imaging allows detection of pathologic change in muscle on the basis of increased strength of echoes. With current commercial equipment, however, there is no method of quantitation of the echoes representing muscle, and there is lack of uniformity in scanning methodology. We describe a specially constructed scanning system, designed to access the raw echo data directly from the ultrasound transducer, and allow display and measurement of the echo signals on a computer. In a study of 38 boys with Duchenne muscular dystrophy, aged 1 to 11 years, who had an ultrasound scan of the thigh muscle, 32 (84%) had abnormality on quantitation of the ultrasound echoes. The quantitative techniques we describe could easily be incorporated into the design of ultrasound scanners.

SUMMARY Twenty two boys with Duchenne muscular dystrophy were entered into a randomised double blind crossover trial to compare respiratory muscle training with a Triflow II inspirometer and 'placebo' training with a mini peak flow meter. Supine posture was associated with significantly impaired lung function, but respiratory muscle training showed no benefit.The fundamental respiratory problem in Duchenne muscular dystrophy is progressive intercostal and diaphragmatic muscle weakness often complicated by scoliosis. In practice the absolute lung volumes and forced expiratory flow measurements increase up to the age of 10-12 years, after which they fail to improve further with age, producing a fall in spirometric indices in late teenage life with deterioration in blood gas concentrations and eventual death.One potential method of improving lung function in Duchenne muscular dystrophy is respiratory muscle training. Such a method would be useful as a means of preparing the child for surgery. Martin et a12 and Houser et a13 have claimed benefit from respiratory muscle training, but neither used a control period of placebo training. We performed a double blind, placebo controlled, crossover study to evaluate the effect of short term respiratory muscle training on lung function. Patients and methodsTwenty two boys with Duchenne muscular dystrophy aged 9-14 years (mean 11.6) were recruited from two special schools where they received daily physiotherapy. They were randomised to receive either respiratory muscle training using a Triflow IL Inspirometer (Cheseborough Ponds) to a total of 20 inspirations/day, or 'placebo' training using a mini peak flow meter to a total of 10 expirations/day, administered by the school physiotherapists. To compare the effect of Triflow and placebo training we applied a standard crossover analysis that permits the treatment to be compared by paired t test among all subjects if the order of administration does not alter the treatment effect.6 ResultsOf the 22 children recruited to the study two were withdrawn because of illness during the study period. Eleven children started with 'placebo' respiratory muscle training using the mini peak flow meter, and crossed over to the Triflow inspirometer during the second three week period (group 1). Nine children performed the training in the reverse order (group 2). There was a significant fall in FVC when spirometry was performed in the supine position on 10 May 2018 by guest. Protected by copyright.

We reviewed the incidence and severity of scoliosis in 93 boys with Duchenne muscular dystrophy who had been rehabilitated in light-weight knee-ankle-foot orthoses at the point of loss of ambulation, between the ages of 6 and 12 years. There was an inverse relationship between the severity of the scoliosis and the age walking was lost in the orthoses. The scoliosis was less severe in the 20 boys (22%) who walked in their orthoses beyond 13 years of age than in those who stopped walking in their orthoses before 13 years. There was also a rapid deterioration in the scoliosis between the ages of 13 and 15 years in boys who had stopped walking in their orthoses before the age of 13 years, while in comparison, boys of the same age who were ambulant in their orthoses beyond 13 years showed a much slower rate of deterioration. These results strongly suggest that walking in orthoses beyond the age of 13 years prevented rapid progression of scoliosis between 13 and 15 years of age, ie, during the pubertal growth spurt.

SUMMARY Cloned cDNA sequences representing exons from the Duchenne/Becker muscular dystrophy (DMD/BMD) gene were used for deletion screening in a population of 287 males affected with DMD or BMD. The clinical phenotypes of affected boys were classified into three clinical severity groups based on the age at which ambulation was lost. Boys in group 1 had DMD, losing ambulation before their 13th birthday; those in group 2 had disease of intermediate severity, losing ambulation between the ages of 13 and 16 years; and boys in group 3 had BMD, being ambulant beyond 16 years. A fourth group consisted of patients too young to be classified. Clinical group allocation was made without previous knowledge of the DNA results.A gene deletion was found in 124 cases where the clinical severity group of the affected boy was known. The extent of the deletions was delineated using cDNA probes. There were 74 different deletions. Fifty-five of these were unique to individual patients, but the other 19 were found in at least two unrelated patients.The different clinical groups showed generally similar distributions of deletions, and the number of exon bands deleted (that is, deletion size) was independent of phenotype. Some specific deletion types, however, correlated with the clinical severity of the disease. Deletion of exons containing HindIII fragments 33 and 34 and 33 to 35 were associated with BMD and were not found in patients with DMD. Deletions 3 to 7 occurred in four patients with the intermediate phenotype and one patient with BMD. Other shared deletions were associated with DMD, although in four cases patients with disease of intermediate severity apparently shared the same deletion with boys with DMD.The range of phenotypes observed, and the overlap at the genetic level between severe and intermediate and mild and intermediate forms of dystrophy, emphasises the essential continuity of the clinical spectrum of DMD/BMD.There were no characteristic deletions found in boys with mental retardation or short stature which differed from deletions in affected boys without these features.Duchenne muscular dystrophy (DMD) is an trophy (BMD) has a similar distribution of muscle X linked recessive neuromuscular disorder occurring weakness, but the course of the disease is slower and in about one in 3000 males. Affected boys become milder: ambulation is retained beyond 16 years and wheelchair bound by 13 years of age and few live affected males may have a normal life span. About beyond the second decade. Becker muscular dys-one third of boys with DMD have sdme degree of mental retardation, 1 2 whereas intelligence in BMD IPresent address: