The absence of primary disease of the central nervous system is usually regarded as characteristic of the muscular dystrophies. However, there have been occasional reports of the presence of signs, generally accepted as indicating organic disease of the central nervous system, in otherwise typical examples of muscular dystrophy (Bell, 1943); these signs include extensor plantar responses which ...

Mutations in dystrophin are the proximate cause of Duchenne muscular dystrophy (DMD), but pathogenic mechanisms linking the absence of dystrophin from the sarcolemma to myofiber necrosis are not fully known. The muscular dystrophies also have properties not accounted for by current disease models, including the temporal delay to disease onset, broad species differences in severity, and diversit...

In order to determine the presence and extent of obstructive pulmonary vascular disease in patients with congenital heart disease, magnified cineangiograms were obtained with a catheter in the pulmonary artery wedge position in 155 infants and children undergoing cardiac catheterization. The wedge angiograms (WA) were analyzed in groups according to the pulmonary hemodynamics: group A normal pu...

Patients experience extreme difficulty when facing an intractable genetic disease. Herein, we examine the experiences of patients with Duchenne muscular dystrophy in facing and learning about their disease. A total of seven patients with Duchenne muscular dystrophy (age range: 20-48) participated. We conducted in-depth interviews with them about how they learned of their disease and how their f...