Pulmonary complications including chest infections, atelectasis, pulmonary hypoplasia and ventilatory failure are the leading cause of death in the muscular dystrophies and atrophies. Ventilatory insufficiency is virtually inevitable in Duchenne muscular dystrophy and type 1 spinal muscular atrophy (SMA), but more variable in limb-girdle, congenital, and facioscapulohumeral muscular dystrophy. ...

Respiratory failure is an important terminal event in muscular dystrophy, but increasingly is effectively treated by non-invasive ventilation. This study was designed to assess mortality statistics in this patient group in order to get an indication of future demand. Mortality data for all deaths from muscular dystrophy registered by death certification in England and Wales between 1993 and 199...

Resistance training (RT) is the main method of exercise for improving strength and skeletal muscle mass (i.e., muscle hypertrophy; ACSM, 2009). In order to promote such adaptations, high-intensity resistance training (HI-RT) with loads above 60% of one repetition maximum (1-RM) are typically recommended (ACSM, 2009). To further maximize increases in strength and muscle hypertrophy, it has been ...

Background Muscular dystrophies comprise a heterogeneous group of inherited diseases that are characterized by progressive muscle weakness and degeneration. Severe forms, e.g. Duchenne muscular dystrophy (DMD), which is caused by a mutation in the dystrophin gene, lead to loss of ambulation, respiratory failure, and premature death. In many types of the muscular dystrophies the cardiac muscle i...

BACKGROUND Naval Air Warfare Center Aircraft Division investigated the abilities of small-stature females (< or = 120 lb.) to fly under G-stress using the Dynamic Flight Simulator (DFS) and its tactical fight/attack cockpit, displays and controls. The objective was to determine if these individuals possess sufficient upper-body muscular endurance to perform tasks required during fighter-pilot t...

Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme. As a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. In Pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...

A patient with cytoplasmic body myopathy presented muscle hypotonia from birth and developed progressive muscular atrophy and weakness, scoliosis, contracture of joints and cardiorespiratory failure. At the age of 17, he died of heart failure. Post mortem examination revealed severe hypertrophy of cardiac walls and generalized muscular atrophy. Microscopic examination showed many cytoplasmic bo...

pompe disease, also termed glycogen storage disease type ii or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (gaa), the glycogen degrading lysosomal enzyme. as a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. in pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...