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731: Pediatrics > Muscular Dystrophies > Flashcards

Muscular Dystrophies Flashcards

1
Q

The term muscular dystrophy describes group of muscle disease that are _____ determined and have a steadily _____ degenerative course.

A

genetically

progressive

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2
Q

Duchenne muscular dystrophy occurs 1 in every 3,500 ____ births

A

male

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3
Q

Describe the genetic inheritance of DMD

A

the mutation is X-linked in that male offspring inherit the disease from their asymptomatic mothers

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4
Q

What gene is the mutation for DMD found?

A

dystrophin

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5
Q

What is the gold standard for determining a definitive diagnosis?

A

Muscle biopsy

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6
Q

When do the symptoms of DMD tend to arise?

A

between the ages of 2 to 5

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7
Q

What are the earliest symptoms of DMD?

A
  • reluctance to walk or run at appropriate ages
  • falling
  • difficulty getting up off the floor
  • toe-walking
  • clumsiness
  • pseudohypertrophy of the gastroc
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8
Q

Weakness is steadily progressive with ____ muscles weaker earlier on in the course of the illness

A

proximal

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9
Q

Weakness of the hip and knee extensors often results in what?

A

increase lumbar lordosis

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10
Q

The lordosis occurs in response to what?

A

the attempt to align the COG anerior to the fulcrum of the knee joint and posterior to the fulcrum of the hip joint in order to increase stability

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11
Q

Because the child tends to walk with a wide BOS they develop what kind of contracture?

A

ITB

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12
Q

______ sign is characterized by “climbing up the legs” when rising from the floor

A

Gower’s

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13
Q

What is the earliest contracture to develop?

A

plantarflexion at the ankle with inversion of the foot

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14
Q

Describe the general appearance of a boy with DMD

A
  • shoulders and arms are held back while walking
  • sway back
  • belly sticks out
  • weak glute max
  • thin thighs
  • knee hyperextension
  • thick calves
  • foot drop due to weak ant tib
  • tight heel cords
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15
Q

When grading functional ability of the upper and lower extremities higher scores indicate ____ function

A

poorer

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16
Q

Scoliotic curves are generally not noticed until after the age of __ years

A

11

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17
Q

Why does scoliosis progress as the child ages?

A

the back muscles become weaker and the child spends less time standing and more time sitting

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18
Q

Once a child is confined to a w/c it is recommended that their caloric intake be reduced by __%

A

50

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19
Q

What happens as respiratory muscles atrophy?

A

coughs become ineffective leading to pulmonary infections

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20
Q

When are the first signs and symptoms of respiratory insufficiency seen?

A

with the inset of nocturnal hypoventilation typically in the 2nd decade of life

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21
Q

What are the symptoms of nocturnal hypoventilation?

A
  • excessive fatigue
  • daytime sleepiness
  • morning headaches
  • sleep disturbances
  • feeling the need to gulp for air upon arousal
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22
Q

What are the symptoms when the GI tract becomes affected?

A
  • constipation
  • sudden episodes of vomiting
  • abdominal pain
  • abdominal distention
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23
Q

Constipation lead to the risk of what 2 things?

A

acute gastric dilation or intestinal pseudo-obstruction

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24
Q

When the heart muscle also becomes affected by a deficiency of dystrophin what are 3 potential results?

A
  • cardiomyopathy
  • arrhythmia
  • CHF
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25
Q

Does heart or skeletal muscle involvement occur first?

A

skeletal

26
Q

True or False

Cognitive impairment in children with DMD is progressive

A

False

27
Q

IQ scores fall approximately 1 SD below the mean and affect ____ scores greater than performance scores

A

verbal

28
Q

What are the 4 types treatment that needs to be done in children with DMD?

A
  • medical
  • orthopedic
  • pulmonary
  • cardiac
29
Q

What medical intervention has been shown to increase strength and to improve function for 6 months to 2 years?

A

Glucocorticoid corticosteroids (prednisone, prednisone, and deflazacort)

30
Q

How does creatine monohydrate help treat DMD?

A

Improves maximal exercise performance and recovery from exercise

31
Q

Spinal fixation is recommended when scoliosis begins to progress rapidly and spinal curve exceeds __ degrees

A

30

32
Q

What type of ventilation machine may be used at night to assist breathing and to provide a rest for overworked respiratory muscles?

A

Nasal Bilevel Positive Pressure (BPAP)

33
Q

Why may a GI specialist be required?

A

For constipation issues and to monitor for intestinal pseudo-obstruction

34
Q

What are the 3 phase presentations of DMD?

A

1) Early or ambulatory stage
2) Transitional phase during loss of ambulation
3) Later wheelchair stage

35
Q

What is the focus of treatment during the early ambulation phase?

A

Keep life as normal as possible but prepare for the future. Also optimize breathing and function

36
Q

When does the 2nd (transitional) phase of DMD usually begin?

A

around age 10

37
Q

Is walking advisable during the transitional stage?

A

Yes, but it is important to conserve their energy

38
Q

What are the 2 classifications of functional abilities?

A

Stable performance or declining performance

39
Q

What are 4 functional activities that are frequently timed to monitor function?

A
  • transferring from supine to standing
  • running or walking 10 meters
  • transferring from sitting to standing
  • climbing 4 steps
40
Q

When the time to ambulate 10 meters is greater than __ seconds, this is predictive of loss of ambulation within 2 years.
A 10 meter timed test greater than __ seconds is predictive of loss of ambulation within 1 year.

A

9

12

41
Q

What MMT technique is preferred to better quantify muscle strength in boys with DMD?

A

handheld myometry

42
Q

What 3 joints experience a loss of ROM due to contractures?

A
  • ankle dorsiflexion
  • knee extension
  • hip extension
43
Q

What are the 8 primary PT problems?

A
  • Weakness
  • Decreased active and passive ROM
  • Loss of ambulation
  • Decreased functional ability
  • Decreased pulmonary function
  • Emotional trauma
  • Progressive scoliosis
  • Pain
44
Q

What are the 5 goals of PT intervention?

A
  • Prevent deformity
  • Improve pulmonary function
  • Prolonging ambulation
  • Prolong functional capacity
  • Control pain
45
Q

How is functional capacity prolonged?

A

Via normal age-appropriate activity with breaks

46
Q

What type of strength training approaches should be avoided in boys with DMD?

A

max resistance and eccentric training

47
Q

What is myotonic dystrophy (MTD)

A

An autosomal dominant disorder whose location is on chromosome 19

48
Q

When are the symptoms of MTD first noticed?

A

during adolescents

49
Q

What are the 3 characteristics of MTD?

A
  • myotonia
  • a delay in muscle relaxation time
  • muscle weakness
50
Q

Define myotonia

A

the inability to relax voluntary muscle after vigorous effort

51
Q

As muscle weakness progresses, myotonia _____

A

decreases

52
Q

Adolescents with MTD present with signs similar to what disease?

A

Parkinson’s Disease

53
Q

What is Limb Girdle Muscular Dystrophy (LGMD)?

A

A group of progressive muscular dystrophies that affect the proximal musculature

54
Q

The pattern of weakness associated with LGMD is similar to that of Duchenne, however in the more severely involved patients, the ______ girdle is more affected than the pelvic girdle

A

shoulder

55
Q

True or False

Limb girdle muscular dystrophy can affect both upper and lower extremities at the same time

A

False

56
Q

What is congenital myopathy?

A

A group of diseases including nemaline myopathy, central core myopathy, and centronuclear (myotubular) myopathy based on microscopic appearance of the muscles

57
Q

What do congenital myopathies result from?

A

abnormalities of the sarcomeric proteins

58
Q

What characterizes congenital myopathies?

A

weakness and muscle atrophy that typically presents at birth

59
Q

Congenital Muscular Dystrophy (CMD) can be devided into what 2 categories?

A
  • those with CNS involvement

- those without CNS involvement

60
Q

CMD’s are typically referred to as what? Explain why…

A

Muscle-eye-brain disease, because all demonstrate muscle, brain, and eye abnormalities

731: Pediatrics (19 decks)

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