The muscular dystrophies and congenital myopathies are inherited diseases of the skeletal muscle, which lead to a loss of muscle function and are often fatal. While many of the loci involved are already known, these conditions remain incurable, and genetic models are being developed in an effort to understand the pathological mechanisms involved. Recently several papers have shown that the zebr...

Primary biliary cirrhosis (PBC) is a cholestatic liver disease, which is characterized by a chronic inflammatory destruction of intrahepatic bile ducts. It is a rare disorder whose precise etiology is still to be elucidated. Even though the liver is the principal target of PBC, other organ systems also might be affected. Muscular involvement has rarely been described in this disease, and in the...

The natural course of progressive neuromuscular diseases can be complicated by respiratory muscle involvement. In muscular dystrophies such as Duchenne muscular dystrophy and myotonic dystrophy, respiratory muscle involvement is common. In others such as Becker, limb-girdle, and facioscapulo-humeral dystrophies, respiratory muscle involvement is infrequent and generally occurs in the more sever...

Background Duchenne (DMD) and Becker (BMD) muscular dystrophies ( MD) are inherited X-linked diseases characterized by absence or decrease of dystrophin, a sarcolemal protein that is essential for maintenance of the muscular membrane integrity during muscular contraction. Cardiac involvement is as high, it can be clinically silent, but is often complicated by severe heart failure and high morta...

The aim was to describe the natural history of adults with hereditary muscular dystrophies, including myotonic dystrophy, with respect to muscular function, ventilation and electrocardiogram. In a prospective study, 46 subjects were followed over a period of five years. In 1991 and 1996, their muscle function was assessed according to an observation scheme and their lung vital capacity was meas...

Dystroglycanopathies are muscular dystrophies caused by mutations in genes involved the in O-linked glycosylation of α-dystroglycan. Severe forms of these conditions result in abnormalities in exhibit brain and ocular developmental too, in addition to muscular dystrophy. The full spectrum of developmental pathology is caused mainly by loss of dystroglycan from Bergmann glia. Moreover, cognitive...

One of the greatest thrills a biomedical researcher may experience is seeing the product of many years of dedicated effort finally make its way to the patient. As a team, we have worked for the past eight years to discover a drug that could treat a devastating childhood neuromuscular disease, spinal muscular atrophy (SMA). Here, we describe the journey that has led to a promising drug based on ...

Recurrent pneumothorax is a rather uncommon finding in patients with neuromuscular diseases. For cases that happen to patients with neuromuscular diseases while on non-invasive positive pressure ventilation, pneumothorax could be fatal. Medical staff must be vigilant for this complication. Recurrent pneumothorax can be treated with either medical or surgical pleurodesis, depending on the patien...

Motor neuron diseases like amyotrophic lateral sclerosis and myopathies are associated with a higher risk of cardiac and respiratory complications, especially during operative procedures. This review gives an overview of the various complications from which patients with motor neurone diseases and muscular dystrophies may suffer during operations and anaesthesia. The main focus is on the pathop...

Because NMD generally affects the respiratory muscles, most of these patients suffer from restrictive lung disease (RLD). The restrictive component tends to be especially severe in amyotrophic lateral sclerosis, Duchenne’s muscular dystrophy, and spinal muscular atrophy types I and II.8 Even in the earliest stages of these diseases, when few if any respiratory symptoms have been reported, pulmo...