Quadriceps myopathy since birth

Patient

Q: My sister have quadriceps myopathy since birth and now she is 18 years old and obese,she canot walk normally and canot extent her knee,please tell me the treatment

Doctor

A:    Muscle can clinically express disease in very few ways:  weakness or decreased movement, muscle ache, or abnormal variations in power as a result of physical activity. The main clinical hallmark of neuromuscular disease (muscular dystrophy) is weakness. A muscular dystrophy is a potentially hereditary disease characterized by progressive degeneration of muscle. Many such diseases exist. The classification comprises Duchenne, Becker, and various other types. Some patients with Congenital Myopathy , especially central core disease (CCD) (less frequently with multicore disease) are inclined to develop malignant hyperthermia. . The diagnosis is done based in the physical examination, muscle biopsy, lab tests (aldolase, creatinine, LDH, myoglobin in urine and serum), and amongst other test is the EMG. On the other hand, the levels of Creatine may be elevated by some drugs (for example: “Crestor”), anyways the confirmatory diagnosis in case of a  Muscular Dystrophy is the muscle Biopsy, then after getting the results you should discuss with the doctor the best treatment options available for your sister, depending on the cause.

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