Disease Prognosis

Muscular Dystrophy (MD): A progressive disorder that replaces muscle tissue with fat and connective tissue which leads to muscle weakness and progressively worsens throughout life.²

Duchenne Muscular Dystrophy (DMD): DMD is one of the most common forms of muscular dystrophy. It is a genetic, x-linked disorder that is caused by a mutation of the dystrophin gene that encodes dystrophin proteins. The dystrophin proteins are found in skeletal muscle, cardiac muscle, and in the brain, meaning that the mutation of the gene results in a deficiency or absence of sarcolemma dystrophin.³ Muscle weakness results because dystrophin plays a role in maintaining the membrane of muscle cells.¹³

*Each individual's experience with DMD varies

Typical Order of Muscular Wasting:

• • • (1) Atrophy of pelvic-area muscles

    • (2) Atrophy of shoulder muscles

    • (3) Atrophy of trunk and forearms

    • (4) Atrophy of other muscles of the body.¹³

Childhood Course of Disease:

• Delayed developmental milestones relates to physical ability (sitting, standing), may appear to have a gait that appears

like waddling and repeated falling.¹³

• Children may appear clumsy¹³

• Age 3-5: may appear child is improving due to natural growth¹³

• Leg braces by age 8-9 can be common¹³

• By 10-12 most children require use of a wheelchair¹³

Young Adult:

• Decreased memory, reading, problem solving as the individual approaches adulthood^14,15

• As muscle wastes, mobility and independence in activities of daily living and instrumental activities of daily living are affected^16,17

• Over time, individuals with DMD may need to use a wheelchair or other mobility devices in their teenage years. Long-term patients depend on interventions that compensate for the loss of upper extremity function¹⁸

• Further wasting of muscles, scoliosis or lordosis, and contractures may occur through disease progression¹³

Late Teens/Adulthood:

• May experience deterioration of heart muscle, and muscle deterioration of rib cage which may be life-threatening¹³

• Individuals with DMD do not typically live past middle adulthood due to heart and lung complications¹⁹

*Each client has a unique experience, the following are symptoms that relate to DMD

Physical Changes¹³

• • • Muscle atrophy

    • Muscle weakness

    • Enlarged calves

    • Reduced bone density

    • Spine curvature

    • Contractures

    • Cardiomyopathy

Cognitive Changes²⁰

• • • Decreased memory

    • Decreased ability to read

    • Decreased problem solving

    • Attention deficit

    • Learning disability

Behavioral Difficulties

• • • Feelings of loneliness can be a symptom when there is a lack of information about their disease and a lack of empathy from others²⁰

Developmental Challenges¹³

• • • Delays in reaching milestones (sitting, standing, toe walking, waddling, climbing stairs)

    • Repeated falling

• Most commonly diagnosed in boys in early childhood (3-6 years old)¹³

• Effects 1 in 3,500 male births¹³

• 250,000 individuals in the US have DMD¹³