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.

progressive kyphoscoliosis 4.Respiratory failure in 2dor 3d decade. 2.Progressive Muscular Dystrophy Type Duchenne Onset Age (years) Before 5 Clinical Features 1.unable to walk after age 12 3. humeral and perineal weakness Slow progressive weakness of shoulder and hip girdle muscles Cardiomyopathy Emery-Dreifuss Childhood to adult Cardiomyopathy Limb-Girdle early childhood to adult Cardiomyopathy . 1. Other organ systems involved Cardiomyopathy Mental impairment Becker 5-25yr early childhood to adult 1. able to walk after age 15.Progressive weakness of girdle muscles.Progressive weakness of girdle muscles 2.3. respiratory failure may develop by 4th grade Elbow contractures.

Progressive Muscular Dystrophy Type Onset Age (years) Clinical Features Other organ systems involved Congenital At birth or within 1st few months . shoulder girdle. and foot dorsiflexion Cardiac conduction defects Mental impairment Cataracts Frontal baldness Gonadal atrophy . and limb muscles ______ Myotonic Usually 2nd decade May be infancy if mother affected Slowly progressive weakness of face. and foot dorsiflexion Deafness Coat¶s (eye) disease Oculopharyngeal 5th to 6th decade Slowly progressive weakness of extraocular. shoulder girdle. delayed milestones Progression to respiratory failure in some. CNS and Eye abnormalities Facioscapulohumeral Before age 20 Slowly progressive weakness of face. pharyngeal.Hypotonia. contractures.

causing a compromise in cell integrity. An increase in the activity of muscle proteolytic enzymes may accompany the membrane alteration. . Leaving the muscle cell vulnerable to degeneration. but there are 3 theories ‡ Vascular theory: the lack of blood flow causes the typical degeneration of muscle tissue. ‡ Membrane theory: the cell membranes are genetically altered. ‡ Neurogenic theory: Disturbance in nerve-muscle interaction.Pathophysiologic the exact mechanism is unknown.

clawhand or others) Scoliosis .Symptoms ‡ ‡ ‡ ‡ ‡ ‡ ‡ ‡ ‡ ‡ Muscle weakness Delayed development of muscle motor skills Problems walking (delayed walking) Difficulty using one or more muscle groups (depends on the type of dystrophy) Eyelid drooping (ptosis) Drooling Hypotonia Mental retardation ( only present in some types of MD) Joint contractures (clubfoot.

Some types of MD involve the heart muscle.Signs and Tests Examination and history help to distinguish the type of MD. In some cases a DNA test from the blood may be sufficient. 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). fibrosis of the connective tissue and scarring slowly destroy muscle function. Specific muscle groups are affected by different types of MD. Shortening of the muscle fibers. causing cardiomyopathy or arrhythmias. . A muscle biopsy may be the primary test used to confirm the diagnosis. Joint contractures are common. Often.

skeletal muscle. which is an important constituent of muscle. Creatinine : A normal (usual) value is 0. An increase has many indications.urine/ serum: When muscle is damaged. brain. Lowerthan-normal levels may indicate: Muscular dystrophy (late stage) AST: The normal range is 10 to 34 IU/L. especially the heart. Greater-than-normal levels may indicate: Muscular dystrophy. Myoglobin . kidney. and lungs. causing kidney failure. LDH: LDH is most often measured to evaluate the presence of tissue damage. . Creatinine is a breakdown product of creatine. blood cells.Laboratory Test Muscle biopsy: the primary test used to confirm the diagnosis. and eliminated in urine. A serum creatinine test measures the amount of creatinine in the blood. The enzyme LDH is in many body tissues. liver. DNA test Serum CPK (creatine phosphokinase-an enzyme found in muscle) may be elevated. one of them being progressive MD.4 mg/dl. In large quantities. the myoglobin is released into the bloodstream. EMG (electromyography) may confirm that weakness is caused by destruction of muscle tissue rather than damage to nerves.8 to 1. Aldolase: Why the test is performed? This test is indicator ofmuscle damage. myoglobin can damage the kidney and break down into toxic compounds. It is filtered out of the bloodstream by the kidneys. ECG (electrocardiography) to monitor changes in cardiac status.

risk for injury. knowledge deficit. . self-care deficit. and hopeless to name a few. disturbed body image. risk for aspiration.Nursing Diagnosis Impaired mobility. risk for impaired skin integrity. activity intolerance. low self-esteem. caregiver role strain. social isolation.

and dieticians. respiratory therapy. Encourage exercise while teaching s/s of exercise overload: feeling weaker rather than stronger after exercise.Nursing Implications and interventions: ‡ ‡ ‡ ‡ Multidisciplinary. and prolonged shortness of breath. Refer to support groups and clinics. ‡ ‡ ‡ ‡ . psychosocial therapy. excessive muscle soreness. Reinforce techniques learned in all of the above therapies. Ensure braces are a good fit to prevent pressure ulcers and promote stability. occupational therapy. Care for these patients involves arranging for consultations with physical therapy. severe muscle cramping. heaviness of extremities. Be sensitive to psychosocial needs and make appropriate referrals. Have equipment (braces. Educate client and family members thoroughly about expected outcomes and possible problems. OT to ensure proper fit. wheelchairs) evaluated by PT. speech therapy.

‡ Cox. McGraw-Hill Medical Publishing Division. Helen C.mdausa. W. New York. EdD. Saunders Company. ‡ Harrison¶s Principles of internal Medicine 15th edition.emedicine. ³Rehabilitation Management of Neuromuscular Disease. Clinical Applications of Nursing Diagnosis. MS. RN. FAAN. Philadelphia. Davis Company.A. RN.´ http://www. PA: PA: 2002. C.B. Medical-Surgical Nursing. F. ‡ Ignatavicius. Donna. 4th Edition. . ‡ Muscular Dystrophy Association website: http://www. Philadelphia. Greg. 4th ‡ Cart. CM. 2002.

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