Ribosome concentration, ribosome distribution on sucrose density gradients, and in-vitro ribosomal amino-acid incorporation (noncollagen and collagen synthesis) were studied in muscle biopsy samples obtained from 30 patients with Duchenne muscular dystrophy, seven patients with Becker muscular dystrophy, and 10 with facioscapulohumeral muscular dystrophy. Ribosome concentration was normal in Du...

A high incidence of mitral valve prolapse (MVP) has been reported in patients with X-linked Duchenne muscular dystrophy. In our study MVP was present in six of 22 Duchenne dystrophy cases (27%) followed in the Maryland General Hospital Muscular Dystrophy Clinic. In addition, seven carriers of Duchenne and X-linked benign (Becker) dystrophy had evidence of MVP. Autosomal dominant transmission of...

BACKGROUND There is little information on the morphometric characteristics of the diaphragm in patients with Duchenne muscular dystrophy. METHODS The thickness of the diaphragm was measured at the zone of apposition using B mode ultrasonography in 10 boys with Duchenne muscular dystrophy of mean (SD) age 10.3 (1.3) years and 12 normal controls of mean (SD) age 11.3 (2.0) years during relaxati...

The membrane organization of the erythrocytes from patients with Duchenne muscular dystrophy was studied by means of electron spin resonance. The fluidity of the membrane near the polar region of Duchenne muscular dystrophy erythrocytes was similar to that of normal erythrocytes. The membrane environment in the nonpolar region, however, was quite different from that of normal erythrocytes, judg...

BACKGROUND The effect on subsequent respiratory function of spinal stabilisation for scoliosis in Duchenne muscular dystrophy is unclear. In order to clarify this clinical problem, changes in the forced vital capacity of a group of children with Duchenne muscular dystrophy who had undergone spinal surgery were measured and compared with a group of children with Duchenne muscular dystrophy who h...

Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting ...

Turner syndrome is a commonly encountered chromosomal disorder affecting females, while Duchenne muscular dystrophy severe X-linked recessive males. Although theoretically possible, very few cases of DMD associated with have been reported. We report an 8 year old girl who presented rare association mosaicism (45X/46XringX) dystrophy.

Duchenne muscular dystrophy is the most common and severe form of the childhood muscular dystrophies. The disease is typically diagnosed between 3 and 7 years of age and follows a predictable clinical course marked by progressive skeletal muscle weakness with loss of ambulation by 12 years of age. Death occurs in early adulthood secondary to respiratory or cardiac failure. Becker muscular dystr...

Zellweger H, Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics 1975 ;55 :30-4. 2 Firth M, Gardner-Medwin D, Hosking G, Wilkinson E. Interviews with parents of boys suffering from Duchenne muscular dystrophy. Dev Med Child Neurol (in press). 3 Beckmann R, Scheuerbrandt G. Muskeldystrophie (Duchenne)Friiherkennung, CK-Screeningtest, Konsequenzen. Der Kinderarzt 1977;8 :313-...

BACKGROUND Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients. However an acute perforated gastro-duodenal peptic ulcer has not been documented up to now. CASE PRESENTATION A 26-year-old male with Duchenne muscular dystrophy with a ...