Genetics 3

Question 1

MD Common to all forms

Answer 1

Degeneration of muscle with gradual loss of strength

Question 2

FSH - onset in

Answer 2

early adolescence

Question 3

LGD – onset

Answer 3

late childhood or adolescence
FSH and LGD affect both sexes equally

Question 4

DMD and BMD are X‐linked recessive caused by mutations in the dystrophin gene (muscle protein)

Answer 4

males are affected
females are carrier

Question 5

Duchennes MD
The child has difficulty getting up off the floor - the

Answer 5

gowers sign
- Falls frequently
- Difficulty climbing stairs
- Waddling gait (proximal muscle weakness) and increased lumbar lordosis (compensation for hip extensor weakness)

Question 6

Duchennes MD
Toe walking - because of the weakness of

Answer 6

• anterior tibial and peroneal muscles and contracture of the
  posterior calf muscles

Question 7

Duchennes MD
Hip abductor weakness -

Answer 7

trendelenburg sign

Question 8

Duchennes MD
Ambulation continues to deteriorate up to ages of

Answer 8

10-12 years

Question 9

Duchennes MD
- Within 3-5 years, _______ muscles become involved
Symptoms _____

Answer 9

shoulder girdle
- Excessive scapular winging and muscle hypertrophy (especially the upper arms, calves, and thighs)
- Often prevents the use of crutches
- Difficulty in performing overhead activities

Question 10

Duchennes MD
Later

Answer 10

Altered mentation, depressed deep tendon reflexes, contractures, kyphoscoliosis, respiratory involvement, and chronic heart failure

Question 11

Beckers MD
Resemble Duchenne’s with a ______ onset and a _____ course

Answer 11

later onset and milder course

Question 12

Beckers MD
- Ambulation is preserved into mid‐adolescence or later
- Marked by the

Answer 12

tiptoe pattern with bilateral calf muscle hypertrophy

Question 13

Beckers
________ Muscles are affected more

Answer 13

prximal

Question 14

Beckers
When the child becomes WC‐dependent

Answer 14

Scoliosis and contractures (elbow flexors, forearm pronators, and wrist flexors) are common

Question 15

Facioscapulohumeral
- Mild form beginning with weakness and atrophy of the

Answer 15

facial muscles and shoulder girdle**

Question 16

Facioscapulohumeral
Earliest sign is ______
Face is ______
Inability to pucker to _____

Answer 16

Inability to close the eyes
expressionless
whistle

Question 17

Facioscapulohumeral
Diffuse facial flattening and a

Answer 17

pouting lower lip

Question 18

Facioscapulohumeral
Weakness of the LEs is delayed for _______
Contractures, skeletal deformities, and muscular hypertrophy are _______

Answer 18

many years
uncommon

Question 19

Limb-Girdle Dystrophy
Slow course with _______
Muscle weakness in ______

Answer 19

mild impairment
upper arm (biceps and deltoid) and pelvic muscles

Question 20

MD Genetic Testing
EMG

Answer 20

Short, weak bursts of electrical activity in affected muscles

Question 21

What enzyme is very high in MD diagnosis

Answer 21

Creatine kinase

Question 22

MD Diagnosis
Muscle biopsy

Answer 22

• Shows variation in the size of muscle fibers
• In later stages shows fat and connective tissue deposits

Question 23

MD Treatment

Answer 23

No cure

• Corticosteroids may help but long-term use has negative effects

Directed toward maintaining function in unaffected muscle groups

Children who remain active as long as possible avoid complications (e.g., contractures, pressure ulcers, infections)

Question 24

MD Prognosis

Answer 24

All forms are progressive

Prognosis varies

The earlier the clinical signs appear, the more rapid, progressive, and disabling the dystrophy

Question 25

MD Respiratory Involvement Precautions

Answer 25

Monitoring of breathing techniques, respiratory movements, and oxygen saturation levels Deep‐breathing exercises and encouraged to cough Essential to maintain chest mobility