Duchenne Muscular Dystrophy

Question 1

What gene is affected in DMD?

Answer 1

Dystrophin Gene

Question 2

What is DMD?

Answer 2

Progressive neuromuscular degenerative disorder

• fat and connective tissue replace muscle

Question 3

Are males or female affected?

Answer 3

Only males are affected! Females are carriers

Question 4

Etiology

Answer 4

X-Linked Recessive Trait from Carrier Mother passed to Boys

Question 5

First symptoms of DMD?: Proximal or Distal Muscle Weakness?

Answer 5

Proximal Muscle Weakness

Question 6

First symptoms of DMD? Gait Characteristics?

Answer 6

• Toe Walking
• Waddling Gait (Trendelemberg)

Question 7

First symptoms of DMD? Structural Changes?

Answer 7

• Excessive Lordosis
• Pseudohypertrophy of the Calf Muscles

Question 8

What activity is initially identifies DMD? Difficulty performing this activity?

Answer 8

Getting off the floor, needing to use the Gower’s Maneuver/sign

Question 9

What is the Gower’s Sign?

Answer 9

The child assumes the hands-and-knees position and then climbs to a stand by “walking” his hands progressively up his shins, knees, and thighs

Question 10

When does the inability to ambulate mainly manifest?

Answer 10

10-12 years of age

Question 11

What problems start to arise once the patient begins using a wheelchair?

Answer 11

• Contractures
• Respiratory Problems
• Scoliosis

Question 12

Main goals of PT

Answer 12

• Maintain present function
• Educate family/patient
• Adaptations

Question 13

How is Intellect Affected?

Answer 13

Presence of Learning Disabilities