Aldolase catalyses the reversible splitting of fructose 1 :6-diphosphateto glyceraldehyde-3-phosphate and dihydroxy-acetone phosphate. Diagnostically it is of value in distinguishing primary muscular disease from neurogenic muscular atrophy. Most investigators agree that levels are higher in normal children, especially the newly born, than in normal adults and that there is no sex difference (S...

The degree of atrophy or hypertrophy of selected pelvic limb muscles was determined in the canine homologue of Duchenne muscular dystrophy. While most muscles were atrophied, the caudal and cranial sartorius were hypertrophied. Cranial sartorius weights were corrected for body weight and endomysial space to determine true muscle weights (g/kg; mean+/-SD) in three golden retriever muscular dystr...

The primary cause of genetically determined muscular dystrophy remains obscure. Evidence in favour of purely myopathic (Walton, 1969), neoronal (Gallup & Dubowitz, 1973), vascular (Hathway et al., 1970) and autoimmune (Jasmin & Bokdawala, 1970) mechanisms has been put forward. Attempts to find a mutant protein have not yet produced any substantial results. The increase that occurs in certain in...

Steroids in Duchenne muscular dystrophy In his commentary [1] on our recent publication on glucocorticoids in Duchenne muscular dystrophy (DMD) [2], Professor Dubowitz raises the interesting possibility that the prolonged ambulation in Duchenne boys on continuous therapy in contrast to the intermittent schedule may be related to the marked stunting of growth secondary to the higher dose of cort...

Splice-modulation therapy, whereby molecular manipulation of premessenger RNA splicing is engineered to yield genetic correction, is a promising novel therapy for genetic diseases of muscle and nerve-the prototypical example being Duchenne muscular dystrophy. Duchenne muscular dystrophy is the most common childhood genetic disease, affecting one in 3500 newborn boys, causing progressive muscle ...

Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.

To cite: Behera V, Behera MK, Chauhan R, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014205296 DESCRIPTION A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in ...