Duchenne Muscular Dystrophy Flashcards
Description
Recessive X-linked form of muscular dystrophy which results in muscle degeneration and eventual death
Caused by the absence or severe abnormality of protein dystrophin
Incidence
1/5000 live MALE births
1/3 due to spontaneous mutation
Presentation / Progression
Becomes clinically apparent about age 3-5
Clumsiness, poor walking, frequent falls
MUSCLE WEAKNESS symmetric
In Pelvic girdle, then Shoulder girdle
Finally respiratory and distal limb muscles
Muscle contractures
Death usually occurs from ventilatory failure, about age 20
Associated Disorders
Restrictive pulmonary disease - restrict lung expansion
Cardiac abnormalities
Scoliosis
Learning difficulties, 25% have IQ < 75
Malignant hyperthermia - inability to regulate body temperature
Clinical Signs
Calf Pseudohypertrophy - initially enlarged muscles eventually replaced by fat and connective tissue
Proximal muscle Atrophy
Gower’s sign- uses hands and arms to “walk up” on own body from squatted position, indicative of proximal weakness, especially of the lower limbs
Wide-based gait
Abnormal muscle biopsy/ genetic testing
Cure?
Currently no cure
Treatments
Prednisone- steroid that slow down rate of muscle deterioration
Ventilation: non invasive, invasive
Pulmonary care
ROM, exercise, avoid overwork
Progressive
Walking usually stops by age 12-13
Contractures
Severe problem
Ankle, hip, knee, IT band, elbow, wrist
Association between contractures and loss of ambulation
AFOs and stretching prolong walking
Tendon Releases
Bach and McKeon showed tendon releases with short term intensive rehab could
Prolong ambulation
Reduce falls
Improve contractures
Release of
illiotibial band and tensor fascia latae
Gluteus Maximus
Hamstrings
Achilles tendon
Scoliosis
Problems with
skin breakdown
pain
decreased sitting
limitations on cardiopulmonary reserve
Without intervention could progress to a mean of about 90 degrees
Bracing is not effective fore prevention of scoliosis or its progression
Surgical fusion when curve >35 degrees
Other problems
Osteoporosis
Obesity
Hand dysfunction
Hand Dysfunction
Difficulty with fine motor tasks
Picking up heavy objects
Functional deterioration begins about age 10
Extrinsic and Intrinsic digital muscle shortness
Swan-neck and boutonniere deformities
Hyperextension of the interphalangeal joints
Wrist flexion and ulnar deviation contractures
Orthotic goal
Maintain ROM of wrist and hands
Balanced forearm orthosis (BFOs) attached to wheelchair
Robotic arm for ADLs
