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Topic: Non-inflamatory myopathy

History

Symptoms

In medicine, a myopathy refers to a problem or abnormality with the myofibrils in muscle tissue. Therefore, noninflamatory myopathies are a group of diverse muscular diseases, not induced by autoimmune-mediated inflammatory pathways.

Many people suffering from myopathies experience muscle weakness, muscle cramps, stiffness, and tetany.

Epidemiology

Diagnosis

A patient's history is one of the key factors in diagnosing noninflammatory myopathy. This is used to analyze the time frame with which the patient began to express symptoms, as well as used to see if the disease is within the patient's family's history. Basic exams will test for where the muscle weakness is and how weak it is. This is performed by testing for proximal and distal muscle strength, as well as testing for any signs of neurogenic symptoms such as impaired sensation, deep tendon reflexes, and atrophy.

Genetics

Genetic testing is available for many of the common metabolic myopathies and muscular dystrophies, but it is very expensive. For this reason, many professionals recommend that these tests not be used for screening, but rather, used for confirmation of the illness.

Many primary metabolic myopathies, particularly proteins involved in glycogen metabolism, are passed on genetically through an autosomal recessive gene. Various methods are used to screen for these genes, but most involve extraction and analysis of the deficient metabolites and proteins.

Treatment

Screening

Research Direction

References