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Pediatrics > Muscular Dystrophy > Flashcards

Muscular Dystrophy Flashcards

1
Q

What is muscular dystrophy?

A

inherited X-linked recessive disorder

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2
Q

Associated with most severe clinical symptoms?

A

Duchenne Muscular dystrophy (DMD)

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3
Q

Later onset and a milder clinical course?

A

Becker Muscular dystrophy (BMD)

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4
Q

Heart is primarily affected and skeletal muscle is spared

A

DMD-associated dilated cardiomyopathy

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5
Q

Stabilizing component of glycoprotein complex?

A

dystrophin

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6
Q

What happens when dystrophin is absent?

A

degradation of muscle fibers, leads to weakness and wasting

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7
Q

What are the dystrophin levels in DMD?

A

reduced or absent

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8
Q

What are dystrophin levels in BMD?

A

altered

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9
Q

What is the primary symptom of muscular dystrophy?

A

WEAKNESS

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10
Q

What age is muscular dystrophy diagnosed?

A

before age 5

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11
Q

What is the presentation of a child with MD?

A

difficulty running, jumping, and walking up, gower’s sign, waddling gait, lumbar lordosis, calf enlargement, leg pain

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12
Q

What is Gower’s sign?

A

using hands to push into an upright position when getting up from the floor

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13
Q

What muscles are affected first in MD?

A

proximal before the distal limb, and lower before upper extremities

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14
Q

What does DMD cause?

A

cardiomyopathy, conduction abnormalities, arrhythmia

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15
Q

Cardiomyopathy is found in ALL of what age of DMD?

A

> 18yr

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16
Q

When is DMD usually found?

A

late in the disease course, due to inability to exercise

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17
Q

What type of injuries is seen in MD?

A

frequent arm and leg fractures (due to falling)

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18
Q

What develops in all MD pts?

A

progressive scoliosis

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19
Q

What causes the acute respiratory failure?

A

scolosis

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20
Q

What reflexes is found in MD?

A

Hyporeflexia or areflexia

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21
Q

What age are BMD pt usually ambulatory until?

A

15 yo

22
Q

What age does BMD pts die and why?

A

mid 40’s due to dilated cardiomyopathy

23
Q

Can rapidly progress to heart failure due to fibrosis of the heart muscle?

A

BMD

24
Q

How does DMD- w/ dilated cardiomyopathy present?

A

dilated cardiomyopathy and CHF

25
Q

Who can have rapid progression of disease to death?

A

men

26
Q

How long do women take to progress in DMD/w heart?

A

10 yrs

27
Q

What ways can a woman be tested for as a carrier?

A

prenatal- amniocentesis

28
Q

What is seen in symptomatic female carriers?

A 
elevated serum CK (70%)
muscle weakness (20%)
29
Q

What is considered a suspected diagnosis of MD?

A

increased serum CK
Myopathic changes on electromyography
+ family hx suggesting X recessive inheritance

30
Q

DMD serum CK is?

A

10-20x the upper limit of normal

31
Q

BMD/ female carries serum CK is?

A

2-3xs normal

32
Q

Dystrophin blood samples show what in DMD and BMD?

A

DMD- complete or almost complete absence

BMD- abnormal molecular weight or reduced quantity

33
Q

What does a electromyography show?

A

myopathic changes WITHOUT nerve conduction abnormalities

34
Q

What does molecular genetic testing show?

A

elevated serum CK and dystrophinopathy

35
Q

When can elevated CK be tested?

A

early as 12wks gestation by chorionic vilius sampling and DNA analysis

36
Q

What does a muscle biopsy show?

A

isolated “opaque” hypertrophic fibers

37
Q

What is dystrophin replaced with?

A

muscle fat and connective tissue

38
Q

What is the 5 criteria according to European Neuromuscular Centre?

A
  1. Onset of proximal weakness by age of 5
  2. Loss of unassisted walking by 13 yrs
  3. 10 fold > elevation of CK
  4. Absent or almost no dystrophin on muscle biopsy
  5. Duchenne type mutation in dystrophin gene
39
Q

When do DMD die and why?

A

late teens or twenties due to respiratory insufficiency or cardiomyopathy (few beyond 3rd decade)

40
Q

What age is DMD usually wheelchair bound?

A

age 12

41
Q

What is the txt for MD?

A

Predisone or prednisolone daily

42
Q

If ventricular dysfunction on cardiac imaging is seen what meds can be given?

A

ACE inhibitor and/or Beta blocker

43
Q

Txt overt heart failure?

A

diuretics

44
Q

Txt for heart transplant?

A

digoxin

45
Q

What is the screening for echocardiography or cardiac MRI for boys?

A

around age 10, OR symptom onset, repeat q 6-12mo

46
Q

What is the screening for echocardiography or cardiac MRI for female carriers?

A

start after teenage years

47
Q

Recommendation for pediatric pulmonology?

A

baseline @ yearly prior to wheelchair (5-6y)

twice yearly when wheelchair bound

48
Q

What age is ambulation lost?

A

9 yrs

49
Q

What age is a electric wheelchair dependent?

A

14 yrs

50
Q

What age is assistance need for eating and drinking

A

18 yrs

51
Q

What age is ventilation assistant needed?

A

19yrs

52
Q

What should all MD patients have?

A

advanced planning w/ palliative care and end of life issues guided by patient preference

Pediatrics (7 decks)

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