All about myopathy  central core disease myotonia congenita nemaline myopathy |
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What is central core disease?
Central core disease is a type of congenital myopathy where there is absence of organelles and myofibrils in the central
cores of muscle fibres. The disease is characterized by the presence of myofibrillar cores which are best demonstrated by oxidative enzyme histochemistry. An important feature of the disease is its close association with malignant hyperthermia. Central core disease is a slowly progressing skeletal muscle disorder that, unlike most of the muscular dystrophies, is not life-threatening. It is called central core disease because the muscle cells associated with the disease have an abnormal light inner core surrounded by a dark circle. Central core disease develops before early infancy and its symptoms include hip displacement, an inability to jump and run smoothly, and general weakening of the muscles. Associated symptoms and findings may include abnormally diminished muscle tone (hypotonia), potentially resulting in unusual "floppiness" of muscles; muscle weakness; delays in motor development, such as in walking; and/or, in some cases, associated musculoskeletal problems, such as dislocation of the hips at birth (congenital). CCD may also be associated with susceptibility to malignant hyperthermia, a potentially life-threatening reaction to certain anesthetics or skeletal muscle relaxants. |
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More information on myopathy
What is myopathy? - Myopathies are diseases of skeletal muscle which are not caused by nerve disorders. There are many different types of myopathies.
What is central core disease? - Central core disease is a type of congenital myopathy where there is absence of organelles and myofibrils in the central cores of muscle fibres.
What is myotonia congenita? - Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles.
What is nemaline myopathy? - Nemaline myopathy (NM) is a rare neuromuscular disease that is associated with a broad range of special medical needs. |
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