Hereditary muscle diseases

FIG. 4. The transmembrane topology of some mammalian muscle a channels showing the points where single site mutations interfere with fast inactivation and give rise to the hereditary diseases listed. From LehmanmHorn Jurkat-Rott (1999). 

The importance of the adhesion receptor-mediated linkage between ECM components and the cytoskeleton Is highlighted by a set of hereditary muscle-wasting diseases, collectively called muscular dystrophies. Duchenne muscular dystrophy (DMD), the most common type. Is a sex-linked disorder, affecting 1 in 3300 boys. 

Any of the hereditary diseases of the skeletal muscles characterized by a progressive shrinking or wasting of the muscles. At the onset only certain muscles seem affected, but ultimately all muscles become involved. The exact cause is not known. The most common form of muscular dystrophy occurs almost entirely in males since its inheritance is sex linked—passed from mother to son on the X chromosome. There is no effective treatment. Physical therapy may delay the progression of the disease. Dietary adjustments due to limited mobility and feeding difficulties are necessary as the... 

GPC and GPE are the hydrolytic products of the major membrane phospholipids, phosphatidylcholine and phosphatidylethanolamine, respectively. The enzymes responsible for the degradation of these phospholipids, phospholipase A, and Aj, are present in human muscle. Hereditary muscular dystrophy, a lethal disease of young children, is generally assumed to be a membrane disease (Rowland, 1980). Therefore, P-NMR studies on... 

Data in part from Ackerman NJ, Clapham DE Ion channels— basic science and clinical disease. N Engl J Med 1997,-336 1575. Other channelopathies include the long QT syndrome (MIM 192500) pseudoaldosteronism (Liddle syndrome, MIM 177200) persistent hyperinsulinemic hypoglycemia of infancy (MIM 601820) hereditary X-linked recessive type II nephrolithiasis of infancy (Dent syndrome, MIM 300009) and generalized myotonia, recessive (Becker disease, MIM 255700). The term "myotonia" signifies any condition in which muscles do not relax after contraction. 

One is found in muscle and the other in brain and other tissues.844 A hereditary lack of the muscle type enzyme is one of the known types of glycogen storage diseases (Box 20-D). 

Considering the numerous specialized proteins in muscle it is not surprising that many rare hereditary muscle diseases are known. The most frequent and most studied of these is Duchenne muscular dystrophy. 

FSHD is the third most common hereditary muscular dystrophy after Duchenne muscular dystrophy and myotonic dystrophy. As its name represents, the disease predominantly affects the face, the scapulae, and the proximal arm muscles. In... 

Charcot-Marie-Tooth disease (GMT) is named after the three doctors who first described it in 1886, Professor Jean-Martin Charcot (pronounced sharko) (1825-1893), his student, Pierre Marie (1853-1940), who both worked in Paris at the Hospital de Salpetriere, and Dr. Howard Tooth (1856-1925) of London. It is also called peroneal muscular atrophy (PMA) because the peroneal muscle down the front of the shin that enables one to pull the foot up is usually the first muscle to be affected. A weakened peroneal muscle can cause sloppy walking or drop foot, which causes tripping. GMT also has a third and more recent name, hereditary motor and sensory neuropathy(HMSN). This name more accurately describes the syndrome because it is hereditary, can affect both or either the ability to move (motor) or the ability to feel (sensory). 

The best known of these animal diseases is the hereditary myopathy of the mouse, which appeared in a strain 129/Re at the Jackson Laboratory, Bar Harbor, Maine, and is described by Michelson et al. (M15). It is characterized by progressive weakness (most evident in the hind legs), atrophy, and a reduced life-span the affected animals have not only a reduced muscle mass, but also a smaller skeletal size than normal. In-... 

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