OPTA 222 (Muscular Dystrophy)
Patho
Refers to a group of hereditary myopathies characterized by progressive muscle weakness, deterioration and destruction
DMD Life expectancy
-Prior to recently, most cases of D.M.D would not live past their teens. D.M.D. patients die secondary to pure respiratory failure or respiratory failure due to infection
-There have been recent advances in cardiac and respiratory care that now often allow patients to survive into their 30’s
-Many D.M.D patients now go to college and continue on to later lifes stages
Clinical Presentation
-Mostly in males, very rare in females (reported symptomatic carriers)
-Lack of ability to produce protein dystrophin
--Muscle gets replaced with fat
May be identified as early as first trimester of pregnancy; However, symptoms seldom noticed until child is between 2 and 5 years
- Early manifestations: Delay of early developmental milestones *crawling and walking, Fall when attempting to climb, jump etc., Hypertrophy of calves
Abnormal gait, Gower’s maneuver
Diagnisis
Blood Testing
Muscle Biopsy
Life expectancy
16-20 year
Progresion of Gait Pattern
1. hip muscle weaken, arch back, retract shoulder girdle to maintain center of gravity
2. lumber lordosis and protusion of abdomen
3. quad weaken, knee maintain in hyperextension to place axis of rotation post line of gravity
4. both upper and lower extremities is in form proximal musculature being affected distal
Gower's Maneuver
Proximal weaknes
- pt. poor muscle development in hip and thighs use hands to walk up body
Medical Intervengtion
- No cure
- Can get stalistacal estimate of probality of having DMD
- In some cases oral corticosteroids prolong ambulation
Medical Treatmet Options
- Night time ventilatory support can relieve: Isommia, Drowsiness, Headache, Dyspnea, Anxiety
- Scoliosis Treatment: Spinal Fusion
- ROM
- Exercises to maintain function
- Bilateral KAFOs
Rehab Options
- Breathing exercises
- ROM
- Excersises to maintain function
- Bilateral KAFOs
- Wheelchair training
- we want is to keep pt engaged in choosing their goals and assist pt and family with BALDs/IALDs goals
Considerations
- Wheelchair use helps with more freedom however likly to lose function in walking
- willl need motorized chair: issues; cost, transport, pressure issues, enviromental constraints, access issues
Psychoscoial Issues
- Parent Devastated at diagnosis. Grief cycle
- Major times of crises: Age 5 child realizes differences, lose ability to walk
- Transition Times: depression, anger, withdrawal
- Survivor Guilt
MD Type: Becker's Muscular Dystrophy
symptoms don’t begin until age 10 or adulthood. Also have heart, bone and joint problems.
MD Type: Limb Girdle
affects boys and girls equally. Weakness in shoulder, upper arms, hips and thighs
MD Type: Myotonic
Muscles have difficulty relaxing. Can cause muscle weakness, cataracts and heart problems.
MD Type:
term for all MD that occurs beginning at baby stage. Affects both girls and boys. Clinical picture is variable