Diagnosis of Duchenne muscular dystrophy: experiences of parents of sufferers.

Delay in Diagnosis of Duchenne Muscular Dystrophy

Investigators from Johns Hopkins Hospital, Baltimore, MD, retrospectively reviewed 179 records of patients with Duchenne muscular dystrophy (DMD) evaluated between 1989 and 2012. Diagnosis was confirmed by genetic testing or muscle biopsy, and clinical data were complete in 107 patients.

Improved diagnosis of Duchenne/Becker muscular dystrophy.

Prenatal diagnosis of Duchenne muscular dystrophy.

Two pregnancies at risk for X-linked recessive Duchenne's muscular dystrophy were studied at 18 and 20 weeks. Fetal blood was obtained by placental aspiration for measurement of plasma creatine phosphokinase activity. Activity in the first fetus was 96 IU per liter, as compared to a control range of 0 to 150 IU per liter in 16 pregnancies not at risk for the disorder. The pregnancy continued, a...

Duchenne muscular dystrophy An overview of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of DMD involves a deletions/duplications analysis performed by quantitative technique su...