Duchenne Muscular Dystrophy

Question 1

DMD

Answer 1

Duchenne Muscular Dystrophy

Question 2

DMD Profile

Answer 2

• males (x-linked disorder)

- 1:3500 male births

Question 3

DMD Pathophys

Answer 3

• disorder with missing or defective gene that is responsible for the production of dystrophin
• progressive Mm cell destruction

Question 4

Dystrophin

Answer 4

-structural muscle protein

Question 5

Diagnosis of DMD

Answer 5

• clinical presentation
• EMG
• Genetic tests
• lab studies (high serum creatine kinase levels

Question 6

Symptoms begin around age:

Answer 6

-2-5 years

Question 7

S/Sx of DMD

Answer 7

• reluctance to walk/run at typical ages
• falling
• difficulty getting off floor
• toe-walking
• clumsiness
• pseudohypertrophy of gastroc
• Mm weakness
• ROM restrictions
• postural impairments

Question 8

Mm Weakness due to

Answer 8

• pseudohypertrophy

- fatty deposits in muscle

Question 9

ROM Restrictions

Answer 9

-gastroc-soleus and TFL tighten first

Question 10

Standing posture

Answer 10

• lordosis
• scapular winging
• scoliosis

Question 11

____% don’t walk until ____ months

Answer 11

• 50%

- 18 months

Question 12

Average age of diagnosis

Answer 12

5 years

Question 13

Impairments, limitations, restrictions in infancy to preschool:

Answer 13

none

Question 14

S/Sx at diagnosis (at 5 years old)

Answer 14

• clumsiness
• falling
• inability to keep up with peers
• increased lateral trunk sway
• Gowers sign

Question 15

Impairments at 6-10 years)

Answer 15

• stair climbing
• standing from floor
• toe-walking
• progressive weakness
• compensated trendelenburg gait
• fatigue
• pulmonary impairment

Question 16

Gowers Sign

Answer 16

-Kids get up from floor with hands and feet then walk hands up legs to stand up

Question 17

Medical Treatment

Answer 17

• steroids
• oral creatine
• -keep them stronger longer

Question 18

Orthopedic Treatment

Answer 18

• scoliosis
• gastroc contracture
• stress fractures

Question 19

Pulmonary Treatment

Answer 19

• ventilation

- airway clearance

Question 20

Cardiac Treatment

Answer 20

• regular monitoring

- meds for arrhythmias

Question 21

GI Treatment

Answer 21

• weight gain
• constipation
• feeding

Question 22

Primary PT Concerns

Answer 22

• weakness
• Decr AROM/PROM
• aumbulation dysfunction
• decreased functional ability
• decreased pulmonary function
• emotional trauma
• progressive scoliosis
• pain

Question 23

PT Treatment of DMD

Answer 23

• prevent LE deformity (ROM, Orthotics etc)
• prevent spinal deformity (seating/surgery)
• Aerobic exercise
• resistive exercise (no max contraction, no eccentrics, no fatigue)
• prolonging ambulation (tendon lengthening, orthotics)
• w/c use
• weight control
• respiratory
• ADLs
• Family support

Question 24

Adolescent Period

Answer 24

• significant progression of disability
• muscle weakness
• contractures
• difficulty w/ ADL’s

Question 25

Transition to Adulthood

Answer 25

- progression of disability - power mobility - assistance for ADL - hydraulic lift for transfers - skin integrity - respiratory considerations

Question 26

Respiratory Considerations

Answer 26

- contributor to death in 75% of cases - -breathing ex's - -postural drainage - -mechanical ventilation - -power-controlled bed (elevate head)

Question 27

Terminal Stage

Answer 27

- Respiratory Insufficiency - Restriction of chest wall excursion - O2 desaturation coma - death usually in teens or 20s but med advances-->30s/40s