Ch-40 Developmental Alterations of Musculoskeletal Function

Question 1

What is scoliosis?

Answer 1

ab rotational curvature of spine

Question 2

T or F: Scoliosis is more common in adolescent boys than girls.

Answer 2

FALSE; More common in ADOLESCENT GIRLS

Question 3

What is the difference between structural and non-structural scoliosis?

Answer 3

Structural: cause is VERTEBRAL ROTATION

Non-structural: causes other than spin herself

Question 4

What are the three main types of scoliosis?

Answer 4

Idiopathic - genetic; accounts for 80%

Congenital: bone deformity occur BEFORE birth

Teratological: caused by another systemic syndrome like cerebral palsy

Question 5

T or F: Bracing is more effective in congenital and teratological

Answer 5

FALSE; Bracing is less effective in congenital and teratological.

Question 6

T or F: For scoliosis, curvature progresses during growth periods.

Answer 6

TRUE

Question 7

_____ (1) curves progress while a child is growing and rapidly progress during ____ (2) spurts.

Answer 7

Idiopathic (1) & growth (2)

Question 8

T or F: Total number of hours a brace is worn correlates to efficacy to tx.

Answer 8

TRUE

Question 9

Cases of curvature becoming greater than __% (1) = ___ (2) 5% more likely to be affected.

Progression over __%(3) = skeletal immaturity = ____ (4) is required.

Curves over __% (5) = ______ (6) = require ____ (7) fusion to stop progression

Answer 9

20 (1) & girls (2)

25 (3) & bracing (4)

50 (5) & kyphosis (6) & spinal (7)

Question 10

The effects of scoliosis: REDUCED pulmonary function if curvature is _______ (1);

____-side (2) failure if curvature is greater than 80 degrees.

____ (3) disturbances due to thoracic and lumbar deformity.

Answer 10

(1) greater than 60 degress; right (2) & GI (3)

Question 11

Which muscular dystrophy is associated with X-linked mutations in dystophin gene leading to alterations/deletions of muscle protein dystrophin?

Answer 11

Duchenne Muscular Dystrophy (DMD)

Question 12

What gene mutation is associated with Duchenne Muscular Dystrophy?

Answer 12

dystrophin gene

Question 13

T or F: DMD is most common childhood dystrophy.

Answer 13

TRUE

Question 14

Dystrophin involved in anchoring ____ (1) cytoskeleton of muscle fibers to basement fibers.

Poorly anchored fibers tears themselves apart during repeated contraction = free ____ (2) enters muscle cells = cell death

Answer 14

(1) acting & (2) Ca

Question 15

What are the manifestations for DMD? (4 pts)

Answer 15

• pre-school children = muscle weakness
• difficulty walking
• large calves caused by muscle fiber replacement with fat and connective tissue
• weakness starts in PELVIC AREA

Question 16

Diagnosis for DMD?

Answer 16

blood (creatine kinase) can be 100x normal level (1) & +result of increased creatine kinase = genetic testing for dsytrophin gene to confirm diagnosis (2)

Question 17

What is the diagnosis for Myotonic Muscular Dystrophy (MMD)? (2 pts)

Answer 17

• genetic testing for 2 genes that cause MMD
• specific mutation with both genes of repeated expression of CTG triplet

Question 18

What is the tx for MMD?

Answer 18

ROM exercise, bracing and surgical release of contractures are effective

Question 19

T or F: Steroids are ineffective for MMD.

Answer 19

TRUE

Question 20

What are the symptoms for MMD? (3pts)

Answer 20

• muscle weakness
• CATARACTS
• cardiac conditions – often require wheelchair

Question 21

What is the disease hallmark for MMD?

Answer 21

Myotonia – difficulty relaxing muscles after a contraction
E.g., difficulty relaxing hand grip after a handshake

Question 22

Pathophysiology of MMD:

Occurs due to ____ (1) in one of two genes: Type 1 MMD (DMPK gene) & Type 2 MMD (CNBP gene)

Type 1 MMD: display a genetic mechanism called ______ (2) = children of mothers with MMD have more ___ (3) form of MMD.

Answer 22

(1) mutations; (2) anticipation; (3) sever