Muscular Dystrophy

Question 1

Which parent carries the mutated gene for MD?

Answer 1

The mother carries it on her X gene

Question 2

What are the two most common forms of MD?

Answer 2

Duchenne and Becker

Question 3

Which gender is affected by Duchenne MD?

Answer 3

male

Question 4

What is the criteria for Duchenne MD?

Answer 4

genetic testing
onset
rate of progression
history
muscle biopsy
Creatine Kinase Levels

Question 5

What is seen in from birth to two years old in a child with Duchenne MD?

Answer 5

delayed ability to stand and ambulate

Question 6

what is seen in a child with Duchenne MD ages 2-3years

Answer 6

indepence in age-appropriate ADL’s
Enlarged calves
difficulty with floor standing
waddling gait

Question 7

what is seen in a child with Duchenne MD ages 4-6 years

Answer 7

Increased time needed to complete simple ADL’s (doffing/donning pullover shirts and elastic pants)
Noted UE involvement
Increased use of adaptive techniques
Frequent falls, appears clumsy 
Difficulty climbing stairs
Gower’s sign

Question 8

what is seen in a child with Duchenne MD ages 7-10 years

Answer 8

Assistance required for all ADL’s (min to max)
Increased awareness of diagnosis
Moderate loss in UE strength (2/5 to 3/5 muscle grade/fair to poor)
Ambulation with increased lumbar lordosis (sticks out belly and retracts shoulders)
Loss of ability to ambulate
Development of contractures
Max assistance for transfers

Question 9

what is seen in a child with Duchenne MD ages 11-16 years

Answer 9

Max-Total assist needed for ADLs
Significant loss of UE strength
Respiratory involvement (night-time breathing txt needed)
Power wheelchair mobility indicated
Increased contracture development
Total A for transfers

Question 10

what is seen in a child with Duchenne MD ages 16-21+ years

Answer 10

dependent for all ADLs
Decreased respiratory
Eventual death

Question 11

What is the age range of the early stage of DMD?

Answer 11

2-7 years

Question 12

What is the age range of the middle stage of DMD?

Answer 12

7-10 years

Question 13

What is the age range of the end stage of DMD?

Answer 13

10-18 years

Question 14

What are the focusses of OT intervention for early stage DMD?

Answer 14

maintain independence in play activities
maintain independence in age-appropriate ADL’s
adaptive techniques

Question 15

What are the focusses of OT intervention for middle stage DMD?

Answer 15

Equipment management
Maintain independence in school-based activities
maintain independence in ADL’s
adaptive techniques and positioning

Question 16

What are the focusses of OT intervention for end stage DMD?

Answer 16

equipment management
Maintain independence in school-based activities
maintain independence in ADL’s
home visits