Muscular Dystrophy. Definition
Refers to a group of hereditary progressive diseases. Muscular Dystrophy affects muscular strength and action, some of which first become obvious in infancy, and others which develop in adolescence or young adulthood. The syndromes are marked by either generalized or localized muscle weakness, difficulties with walking or maintaining posture, muscle spasms, and in some instances, neurological, behavioral, cardiac, or other functional limitations.
Examination and history help to distinguish the type of MD. Specific muscle groups are affected by different types of MD. Often, there is a loss of muscle mass (wasting), which may be disguised in some types of muscular dystrophy by an accumulation of fat and connective tissuethat makes the muscle appear larger (pseudohypertrophy).Joint contractures are common. Shortening of the muscle fibers, fibrosis of the connective tissue and scarring slowly destroy muscle function. Some types of MD involve the heart muscle, causing cardiomyopathy or arrhythmias.A muscle biopsy may be the primary test used to confirm the diagnosis. In some cases a DNA test from the blood may be sufficient.
Muscle biopsy: the primary test used to confirm the diagnosis.
Serum CPK (creatine phosphokinase-an enzyme found in muscle) may be elevated.
EMG (electromyography) may confirm that weakness is caused by destruction of muscle tissue rather than damage to nerves.
ECG (electrocardiography) to monitor changes in cardiac status.
Myoglobin - urine/ serum: When muscle is damaged, the myoglobin is released into the bloodstream. It is filtered out of the bloodstream by the kidneys, and eliminated in urine. In large quantities, myoglobin can damage the kidney and break down into toxic compounds, causing kidney failure.
LDH: LDH is most often measured to evaluate the presence of tissue damage. The enzyme LDH is in many body tissues, especially the heart, liver, kidney, skeletal muscle, brain, blood cells, and lungs.
Creatinine : A normal (usual) value is 0.8 to 1.4 mg/dl. Creatinine is a breakdown product of creatine, which is an important constituent of muscle. A serum creatinine test measures the amount of creatinine in the blood. Greater-than-normal levels may indicate: Muscular dystrophy. Lower-than-normal levels may indicate: Muscular dystrophy (late stage)
AST: The normal range is 10 to 34 IU/L. An increase has many indications, one of them being progressive MD.
Aldolase: Why the test is performed? This test is indicator ofmuscle damage.
Impaired mobility, activity intolerance, risk for injury, risk for aspiration, risk for impaired skin integrity, self-care deficit, knowledge deficit, caregiver role strain, low self-esteem, social isolation, disturbed body image, and hopeless to name a few.