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Muscular Dystrophy


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


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.

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.

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

Treatment of MDs
Supportive PT, orthopedic procedures, Ventilatory support

Assistance meeting the demands of daily living

Initial Muscle Groups involved in MD

Duchenne Muscular Dystrophy (DMD)

Also called pseudohypertrophic MD Most severe and most common of muscular

dystrophies in childhood X-linked inheritance pattern;

one third are fresh mutations

Incidence: 1 in 3600 male births

Results from lack of dystrophin, a protein found in

skeletal muscle

Characteristics of DMD
Onset between ages 3 and 5 years Progressive muscle weakness, wasting, and

contractures Calf muscles hypertrophy in most patients Progressive generalized weakness in adolescence Death from respiratory or cardiac failure Males are affected almost exclusively. Most children reach developmental milestones early in life therefore masking progression of the disease.

Diagnostic Evaluation of DMD

Suspected based on clinical appearance

Confirmation by EMG, muscle biopsy

Serum CPK level high in first 2 years of life, before

onset of weakness; levels diminish as muscle deterioration continues

Clinical Manifestations of DMD

Waddling gait, frequent falls, Gower sign

Enlarged muscles, pseudohypertrophy, especially

thighs and upper arms Evidence of muscle weakness appears during 3rd to 7th year. Difficulty climbing stairs, riding bike, walking, and running are first symptoms.

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

Therapeutic Management of DMD

No effective treatment established Primary goal: maintain function in unaffected

muscles as long as possible Keep child as active as possible ROM, bracing, performance of ADLs, surgical release of contractures prn Genetic counseling for family Involve parents in making decisions about the childs care including keeping all appointments. Encourage parents to immunize children for influenza and pneumonia

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

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 patients 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.

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

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 skills Allow child to participate in decision making for care. Appropriate health care assistance as childs needs intensify (home health, skilled nursing facility, respite care, etc.) Give referrals for support groups