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Myopathies refer to a class of degenerative skeletal muscle disease that is not caused by nerve dysfunction.  Myopathies cause progressive weakness and wasting away of skeletal muscles.  The causes for Myopathies vary.  They could be hereditary, an inflammatory response, or the result of an endocrine disorder.  The different types of Myopathies are classified according to their causes. 


Genetic Myopathies include Central Core Disease, Centronuclear (Myotubular) Myopathy, Myotonia Congenita, Nemaline Myopathy, Paramyotonia Congenita, Periodic Paralysis and Mitochondrial Myopathies.  These forms vary by symptoms, severity and genetic mutation.  Both dominant and recessive modes of inheritance are also present. Certain forms of Centronuclear Myopathy, also known as Myotubular Myopathy, have been found to be X-linked and primarily affects males.


Symptoms common among myopathies include weakness of the voluntary muscles of the arms, legs, and trunk, drooping upper eyelids, foot drop, facial weakness and lack of reflexes in the affected muscles.  Some symptoms may be transitory.  Although there is no effective cure or treatment for them, myopathies are hardly ever debilitating. 


Due to the varying forms and causes of Myopathies, determining the form of Myopathy the individual patient has is crucial in providing the proper treatment.  Diagnosis includes a thorough physical examination, measurement of potassium in the blood, muscle biopsies and an electromyogram (EMG). In genetically based Myopathies, the affected families are strongly advised to consult a genetic counselor.  Couples with a history of X-linked form of Myopathy may benefit from a new procedure called Preimplantation Genetic Diagnosis (PGD).  In hereditary disorders that are predominant in one gender, implantation of gender-specific embryos through PGD will greatly reduce the chance of having an affected child.  A genetic counselor, after conducting a thorough genetic evaluation, can determine whether PGD will be beneficial.  PGD is currently available for a number of genetic disorders.  PGD is continually being improved in order to test for other genetic disorders.



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Last modified: 06/09/04