Duchenne Muscular Dystrophy Flashcards Preview

Orthotic Study > Duchenne Muscular Dystrophy > Flashcards

Flashcards in Duchenne Muscular Dystrophy Deck (14)
Loading flashcards...
1
Q

Description

A

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

2
Q

Incidence

A

1/5000 live MALE births

1/3 due to spontaneous mutation

3
Q

Presentation / Progression

A

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

4
Q

Associated Disorders

A

Restrictive pulmonary disease - restrict lung expansion

Cardiac abnormalities

Scoliosis

Learning difficulties, 25% have IQ < 75

Malignant hyperthermia - inability to regulate body temperature

5
Q

Clinical Signs

A

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

6
Q

Cure?

A

Currently no cure

7
Q

Treatments

A

Prednisone- steroid that slow down rate of muscle deterioration

Ventilation: non invasive, invasive

Pulmonary care

ROM, exercise, avoid overwork

8
Q

Progressive

A

Walking usually stops by age 12-13

9
Q

Contractures

A

Severe problem

Ankle, hip, knee, IT band, elbow, wrist

Association between contractures and loss of ambulation

AFOs and stretching prolong walking

10
Q

Tendon Releases

A

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

11
Q

Scoliosis

A

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

12
Q

Other problems

A

Osteoporosis

Obesity

Hand dysfunction

13
Q

Hand Dysfunction

A

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

14
Q

Orthotic goal

A

Maintain ROM of wrist and hands

Balanced forearm orthosis (BFOs) attached to wheelchair

Robotic arm for ADLs