All about myopathy  central core disease myotonia congenita nemaline myopathy |
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What is nemaline myopathy?
Nemaline myopathy (NM) is a rare neuromuscular disease that is associated with a broad range of special medical needs,
such as weakness of the respiratory muscles and those in the face, arms, legs and the trunk as well as low muscle tone. Diagnosis is based on the presence of rod-like structures known as "nemaline bodies" in a patient's muscle biopsy. Nemaline myopathy, also known as Rod body disease, develops from birth to adulthood and is nonprogressive and usually not fatal. Symptoms include weakening of the leg, arm, and trunk muscles and some weakening of various facial and throat muscles. The affected muscles usually have poor reflexes. There is a particularly severe type of nemaline myopathy that, if present at birth, causes death due to breathing complications. Nemaline myopathy may be passed on from parents to children in some families, while in others, it may arise for the first time, with no previous family history of the disorder. When a genetic change occurs for the first time in an individual, it is known as sporadic. On the other hand, when NM is inherited, it can be passed on in an autosomal dominant or in an autosomal recessive form. No curative therapy is currently available for nemaline myopathy. The effects of anabolic agents in this disorder are unknown. The main factors influencing prognosis seem to be the respiratory capacity and the development of scoliosis. Monitoring of respiratory capacity is an essential element in the care of these patients. The need for intermittent or permanent use of a mechanical ventilator should be evaluated at an early stage because of the risk of nocturnal hypoxia and sudden respiratory failure. |
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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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