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NANCY BEDWELL SHANNON CAMPBELL TIFFANY DOSS KALEY KEITH Muscular Dystrophy

Duchenne PPT

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Page 1: Duchenne PPT

NANCY BEDWELLSHANNON CAMPBELL

TIFFANY DOSSKALEY KEITH

Muscular Dystrophy

Page 2: Duchenne PPT

Muscular Dystrophies (MDs)

Largest group of muscular diseases in children

Genetic origin with: gradual degeneration of muscle fibers progressive weakness wasting of skeletal muscles

Increasing disability and deformity with loss of strength

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Facioscapulohumoral MD

Inherited as an autosomal dominant disorder with onset in early adolescence .

Characterized by difficulty in raising the arms over the head,, lack of facial mobility, and a forward slope of the shoulders.

Progression is slow and life span is usually unaffected.

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Limb Girdle MD

Autosomal recessive disease of later childhood, adolescence, or early adulthood with bariable but usually slow progression.

Characterized by weakness ofr proximal muscles of the pelvic and shoulder girdles.

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Beckers MD

Results from mutations of the gene that encodes dystrophin, however it is not absent, rather severley decreased.

Same symptoms of DMD, however later onset.

1 in 30,000 births

Page 6: Duchenne PPT

Treatment of MD’s

SupportivePT, orthopedic procedures, Ventilatory supportAssistance meeting the demands of daily

living

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Initial Muscle Groups involved in MD

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Duchenne Muscular Dystrophy (DMD)

Also called pseudohypertrophic MDMost severe and most common of muscular

dystrophies in childhoodX-linked inheritance pattern;

one third are fresh mutations

Incidence: 1 in 3600 male birthsResults from lack of dystrophin, a protein

found in skeletal muscle

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Characteristics of DMDOnset between ages 3 and 5 yearsProgressive muscle weakness, wasting, and

contracturesCalf muscles hypertrophy in most patientsProgressive generalized weakness in

adolescenceDeath from respiratory or cardiac failureMales are affected almost exclusively.Most children reach developmental milestones

early in life therefore masking progression of the disease.

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Diagnostic Evaluation of DMD

Suspected based on clinical appearanceConfirmation by EMG, muscle biopsySerum CPK level high in first 2 years of life,

before onset of weakness; levels diminish as muscle deterioration continues

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Clinical Manifestations of DMD

Waddling gait, frequent falls, Gower signLordosisEnlarged muscles, pseudohypertrophy,

especially thighs and upper armsEvidence of muscle weakness appears during

3rd to 7th year.Difficulty climbing stairs, riding bike,

walking, and running are first symptoms.

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Clinical Manifestations Cont.

Ultimately involves the diaphragm and accessory muscles of repsiration and cardiovascular involvement.

Cardiomyopathy, dysrhythmias, and heart failure are common

Profound muscular atrophy in later stages causing contractures and deformities.

Mental deficiency common

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Therapeutic Management of DMD

No effective treatment establishedPrimary goal: maintain function in unaffected

muscles as long as possibleKeep child as active as possible ROM, bracing, performance of ADLs, surgical

release of contractures prnGenetic counseling for familyInvolve parents in making decisions about the

child’s care including keeping all appointments.

Encourage parents to immunize children for influenza and pneumonia

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Therapeutic Mgmt Cont.

Respiratory and cardiac problems become the central focus because of abnormal breathing patterns particularly during REM sleep. This may result in hypoxia. Therefore, discussion of long-term ventilation options should take place.

May use BiPAP temporarily or full-time. Mechanically Assisted Cough or tracheotomy

may be used to relieve airway obstruction.Home pulse oximetry may be used to monitor

oxygenation during sleep

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Therapeutic Mgmt Cont.

Mechanical cough inexsufflator Used to assist with clearing airway when cough reflex

is diminished Delivers PIP at a set rate, followed by negative

pressure exsufflation coordinated with the patient’s own breathing rhythm.

Exsufflation mimics the cough relfex so mucus can be effectively cleared. Suctioning is then used to clear the airway.

MIE maybe connected directly to a tracheostomy or used with a mouthpiece or face mask.

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Therapeutic Mgmt Cont.

Survival may be prolonged several years with the use of noninvasive ventliation and MAC as alternatives to tracheotomy and airway suctioning

AAP recommends an extensive cardiac evaluation of the child diagnosed with DMD since they may not present with typical signs and symptoms of cardiac dysfunction.

Genetic counseling is also recommended for parents, sisters, and maternal aunts and their daughters.

Long-term care, end-of –life directives , and palliative care options should be discusses with parents and children

Page 17: Duchenne PPT

Nursing Considerations of DMD

Help child/family cope with chronic, progressive, debilitating disease.

Design plan to foster independence and activity as long as possible

Teach child self-help skillsAllow child to participate in decision making

for care. Appropriate health care assistance as child’s

needs intensify (home health, skilled nursing facility, respite care, etc.)

Give referrals for support groups