Muscular DystrophyDefinitionRefers 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 Muscular DystrophyType Onset Age(years) Clinical Features Other organ systems involvedDuchenneBefore 5 1!rogressive "ea#ness of girdle muscles$una%le to "al# after age 1$&progressive #yphoscoliosis'(espiratory failure in $dor &d decadeCardiomyopathy)ental impairmentBec#er 5*$5yrearly childhood to adult 1!rogressive "ea#ness of girdle muscles$ a%le to "al# after age 151& respiratory failure may develop %y 'th grade Cardiomyopathy+mery*Dreifuss Childhood to adult +l%o" contractures, humeral and perineal "ea#ness Cardiomyopathy-im%*.irdleearly childhood to adult /lo" progressive "ea#ness of shoulder and hip girdle muscles CardiomyopathyProgressive Muscular DystrophyType Onset Age(years) Clinical Features Other organ systems involvedCongenitalAt %irth or "ithin 1st fe" months0ypotonia, contractures, delayed milestones!rogression to respiratory failure in some1 C2/ and+ye a%normalitiesFacioscapulohumeral Before age $3 /lo"ly progressive "ea#ness of face, shoulder girdle, and foot dorsifle4ionDeafnessCoat5s (eye) diseaseOculopharyngeal 5th to 6th decade /lo"ly progressive "ea#ness of e4traocular, pharyngeal, and lim% muscles777777)yotonic 8sually $nd decade )ay %e infancy if mother affected/lo"ly progressive "ea#ness of face, shoulder girdle, and foot dorsifle4ionCardiac conduction defects)ental impairment CataractsFrontal %aldness.onadal atrophyPathophysiologic the exact mechanism is unknown, but there aretheories!"ascular theory# the lack of blood flow causes the typical degeneration of muscle tissue. !$eurogenic theory#Disturbance in nerve%muscle interaction. !Membrane theory#the cell membranes are genetically altered, causing a compromise in cell integrity. &n increase in the activity of muscle proteolytic enzymes may accompany the membrane alteration. 'eaving the muscle cell vulnerable to degeneration. Symptoms!Muscle weakness!Delayed development of muscle motor skills!(roblems walking )delayed walking*!Difficulty using one or more muscle groups )depends on the type of dystrophy*!+yelid drooping )ptosis*!Drooling!,ypotonia !Mental retardation ) only present in some types of MD*!-oint contractures )clubfoot, clawhand or others*!.coliosisSigns and Tests+xamination and history help to distinguish the type of MD. .pecific muscle groups are affected by different types of MD. /ften, 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*.-oint contractures are common. .hortening of the muscle fibers, fibrosis of the connective tissue and scarring slowly destroy muscle function. .ome types of MD involve the heart muscle, causing cardiomyopathy or arrhythmias.& muscle biopsy may be the primary test used to confirm the diagnosis. 0n some cases a D$& test from the blood may be sufficient.Laboratory TestMuscle biopsy:the primary test used to confirm the diagnosis. D$& test Serum CPK )creatine phosphokinase%an enzyme found in muscle* may be elevated. +M1 )electromyography* may confirm that weakness is caused by destruction of muscle tissue rather than damage to nerves. EC )electrocardiography* to monitor changes in cardiac status.Myoglobin % urine2 serum#3hen muscle is damaged, the myoglobin is released into the bloodstream. 0t is filtered out of the bloodstream by the kidneys, and eliminated in urine. 0n large 4uantities, myoglobin can damage the kidney and break down into toxic compounds, causing kidney failure.LD!: 'D, is most often measured to evaluate the presence of tissue damage. The enzyme 'D, is in many body tissues, especially the heart, liver, kidney, skeletal muscle, brain, blood cells, and lungs.Creatinine # & normal )usual* value is 5.6 to 7.8 mg2dl.9reatinine is a breakdown product of creatine, which is an important constituent of muscle. & serum creatinine test measures the amount of creatinine in the blood.1reater%than%normal levels may indicate# Muscular dystrophy. 'ower%than%normal levels may indicate# Muscular dystrophy )late stage* "ST: The normal range is 75 to 8 0:2'. &n increase has many indications, one of them being progressive MD. "ldolase# #hy the test is performed; This test is indicator ofmuscle damage.$ursing Diagnosis 0mpaired mobility, activity intolerance, risk for inRehabilitation Management of $euromuscular Disease.?http#22www.emedicine.com2pmr2topic@.htm.!9ox, ,elen 9., R$, 9, +dD, A&&$.9linical &pplications of $ursing Diagnosis. 8th+dition.A.&. Davis 9ompany.(hiladelphia, (@55@.!0gnatavicius, Donna, M., R$, 9M.Medical%.urgical $ursing.8th +dition.3.=..aunders 9ompany.(hiladelphia, (@55@.!Muscular Dystrophy &ssociation website#http#22www.mdausa.org.!,arrisonBs (rinciples of internal Medicine 7Cth edition, Mc1raw%,ill Medical (ublishing Division, $ew Dork. @55@.