Extreme deficiency of dystrophin

Elevated levels of serum creatine kinase and other enzymes (diminish over time)

Hypotonia

Developmental delay, often delay in walking

Waddling gait

Diminished or absent patellar tendon reflexes

Gower sign by age 5 to 8

Difficulty climbing stairs

Clumsiness

Hypertrophy of muscles, principally of calf

Standing and walking on balls of feet

Lordosis

Tight heel cords

Leg pain

Contractures (beginning with ankles, hips and knees, then upper limbs)

Progressive muscle weakness and atrophy (esp. central body muscles, not distal)

Deteriorating lung function

Loss of ambulation between age 9 and 14

Early death (average age 16; maximum 30s)

Scoliosis (75-90% if wheelchair bound)

Kyphosis

Respiratory failure

Pneumonia

Cardiomyopathy

Chronic cardiac failure (up to 50%)

Mental retardation (25-30%), usually mild

Gastrointestinal disorders (dysphagia, acute gastric dilation, megacolon, volvulus, cramping pain, malabsorption)

Malignant hyperthermia or hypothermia

Obesity

Perform complete physical and neurological exam to detect congenital anomalies

Review family medical history

Blood tests: chemistry and hematology

Measure creatine kinase levels with blood test

Confirm diagnosis with muscle biopsy

Assess muscle function

Genetic testing

Provide genetic counseling, including discussion of inheritance risk (or refer to genetic counselor who is knowledgeable regarding Duchenne Dystrophy)

Refer to early intervention programs and/or disability support groups

Discuss possibility of SSI enrollment

Assess muscle function

Functional Grade, Timed Motor Performance

Monitor for muscle weakness and atrophy

Manual Muscle Tests (Quantitative yearly)

Monitor for scoliosis

Refer to orthotist or orthopedic surgeon as needed

Discuss durable medical equipment options

Ankle supports, leg braces, wheelchairs with appropriate seating, and powered wheelchairs as needed

Assess lung function annually

Inspiratory / expiratory exercises

Consider noninvasive intermittent positive ventilation as needed (24 hour and nighttime), tracheostomy

Assess cardiac function annually (Older than age 10)

EKG, Holter monitoring, Echocardiograms

Assess spine / orthopedic problems.

Recommend daily stretching exercises

Recommend mild exercise or aquatic therapy as long as no pain or exhaustion is experienced

Refer for physical and occupational therapy evaluation as needed

Refer to nutritionist or registered dietician because of increased caloric requirements

Consider surgery to release contractures or fixation of joints

Recommend epidural anesthesia as an alternative to general anesthesia in surgery to prevent cardiorespiratory complications

Refer for psychological evaluation and assessment of cognitive function as needed

Refer to psychological counseling. Encourage children to be independent as much and as long as possible

Assess behavioral problems, cognitive issues, learning / school issues, speech evaluation and therapy.

Recommend daily strength and flexibility exercises (swimming, bicycling, gymnastics)

Recommend daily stretching exercises

Refer for occupational and physical therapy evaluation several times a year

Consider referral to an orthotist for leg braces and night splinting to increase flexibility

Monitor school progress

Recommend and arrange for dental care

Monitor progression of disease

Monitor for spinal / orthopedic problems

Range of Motion: possible surgical release of contractures

Spinal problems: x-ray every 6 months and DEXA annually: possible surgical release for joint fixation or spine stabilization.

Refer to a pulmonary specialist for respiratory therapy initial consultation

Develop a standing and/or walking regimen to promote lung function and delay progression of scoliosis

Continue ongoing occupational and physical therapy evaluations several times a year

Consider referral to an orthotist for ankle/foot orthoses or leg braces and night splinting to increase flexibility; wheelchair use to maintain mobility; or scoliosis orthoses to support spine

Consider spinal stabilization surgery (spinal fusion, Luque rods)

Monitor progression of disease

Continue ongoing occupational and physical therapy evaluations several times a year

Consider referral to an orthotist for leg braces, night splinting, and powered wheelchair with appropriate seating

Consider swimming or stationary cycling for cardiac health

Discuss long-term financial plans

Discuss alternative community living resources

Possible Interventions

Long-term steroid therapy to improve muscle strength

Surgical correction of contractures; tenotomy of the Achilles tendon; posterior tibial-tendon transfer surgery

Low intensity, low frequency electrical stimulation

Gene therapy: (1) adenovirus-mediated dystrophin gene transfer; (2) upregulation of utrophin, a natural dystrophin analog (still being researched)

Myoblast transplantation to replace dystrophin (still being researched)

Common Side-effects of Long-term Steroid Therapy

Weight gain - measure with DEXA

Hypertension - measure vital signs

Gastrointestinal bleeding - perform lab chemistries

Immunosuppression

Fractures & osteoporosis - measure with DEXA