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Pediatrics (SE) > Neuromuscular Diseases > Flashcards

Neuromuscular Diseases Flashcards

1
Q

List 4 similarities between muscular dystrophy and spinal muscular atrophy.

A
  1. Both diseases are inherited and acquired disorders of the motor unit or the LMN
  2. Progressive neuromuscular diseases that result in progressive weakness
  3. Death is usually a result of respiratory complications
    (Occasionally cardiac failure)
  4. No known cure
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2
Q

All forms of muscular dystrophy are caused by _____.

A

Genetic inheritance

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3
Q

What is the underlying pathophysiology of muscular dystrophy?

A

Weakness secondary to progressive loss of muscle contractility due to destruction of myofibrils.

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4
Q

List 4 ways that a diagnosis of muscular dystrophy is confirmed.

A
  1. Clinical exam
  2. EMG
  3. Lab procedures (DNA, selected enzyme levels)
  4. Muscle biopsy
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5
Q

____ is commonly below average in individuals with muscular dystrophy, so significant _____ impairment is not unusual.

A

IQ

Intellectual

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6
Q

_____ is a hallmark sign/functional limitation of MD.

A

Progressive disability

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7
Q

List the 6 criteria for MD classification.

A
  1. Mode of inheritance
  2. Age of onset
  3. Rate of progression
  4. Localization of involvement
  5. Muscle morphologic changes
  6. Associated involvement of other organ systems
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8
Q

What is a Gower maneuver?

A

Patient uses hands and arms to walk up their legs to stand

Indicative of lack of proximal strength and control

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9
Q

______ is the most common type of MD.

A

Duchene

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10
Q

Describe the onset, age of diagnosis, inheritance, and course of Duchene’s MD.

A

Onset: 1-4 years
Age of diagnosis: 3-4 years
Inheritance: X-linked
Course: Rapidly progressive; loss of walking by 8-14 years (become w/c dependent); death in late teens- 3rd decade

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11
Q

Describe the onset, age of diagnosis, inheritance, and course of Becker’s MD.

A

Onset: 5-10 years
Age of diagnosis: 11 years
Inheritance: X-linked
Course: Slowly progressive; maintain walking past early teens; lifespan into 4th-5th decade

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12
Q

Children with Duchenne’s MD tend to be ____ and have low ____.

A

Overweight

Low IQ

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13
Q

List 3 secondary complications associated with Duchenne’s MD.

A

Musculoskeletal
Pulmonary
Skeletal (scoliosis)

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14
Q

What are the 2 causes of death in patients with Duchenne’s MD?

A

70% respiratory

30% cardiac

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15
Q

What 4 muscle groups are weak in patients with Duchenne’s MD?

A

Neck flexors
Intrascapular muscles
Abdominals
Hip extensors

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16
Q

List the pattern and progression of contractures in Duchenne’s MD. (6)

A 
Tendo-Achilles
Ilio-tibial band
Hip flexors
Hamstrings
Elbow flexors
Wrist flexors
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17
Q

Early phase DMD ranges from ___ years until ____ years and is marked by ____.

A

Ranges from 2-6 years until 6-10 years

Marked by functional losses

18
Q

List 5 therapy considerations used to treat children in the early phase of DMD.

A
  1. Enhance strength thru games and functional activities
  2. Coordination and balance
  3. Flexibility esp. Achilles, hip flexors, IT band
  4. Orthotics (AFOs/night splinting, shoe orthoses)
  5. Never use food as a reward
19
Q

List 3 characteristics of the transitional phase of DMD.

A
  1. From 6-12 years
  2. Onset of marked postural adjustments, muscle weakness, and functional losses
  3. Strength patterns (Biceps > triceps, supinators > pronators, hand/wrist extensors > flexors)
20
Q

List 7 therapy considerations used to treat children in the transitional phase of DMD.

A
  1. Promote activity without causing fatigue
  2. Coordination and balance
  3. Flexibility
  4. Orthotics (AFOs, full leg orthoses, elbow orthoses)
  5. Begin respiratory exercises
  6. Look into house modification
  7. Referral for scoliosis check by orthopedist
21
Q

In the loss of ambulatory phase the child is typically between ____ years of age and spends ___% of the day in a W/C or scooter.

A

8-14 years

90% of day in W/C or scooter

22
Q

Children in the loss of ambulatory function phase of DMD should be evaluated by a PT/OT every ____.

A

2 months

23
Q

List 8 therapy considerations used to treat children in the loss of ambulatory AND adult phases of DMD.

A
  1. Maintain strength via AAROM
  2. Maintain flexibility
  3. Swimming
  4. Promote good alignment (trunk support, orthoses)
  5. Position in all settings
  6. Orthotics (AFOs, back bracing, splints)
  7. Adaptive equipment (lap tray, standing table, lift for transfers)
  8. MD monitors scoliosis, respiratory functions
24
Q

List 3 characteristics of the adult phase of DMD.

A
  1. Age 15+
  2. Myocardium deteriorates along with the skeletal muscle.
  3. Risk of heart attack increases although most young men die from respiratory complications/failure
25
Q

_____ and ____ are used to treat DMD.

A

Steroids (deflazacort/ prednisone)

Molecular therapeutics

26
Q

Steroids may increase _____ and slow down ____.

A

Increase time ambulating

Slow down progression

27
Q

List 5 side effects associated with steroid use.

A
  1. Cataracts
  2. Increased fractures
  3. Increased weight
  4. Mood swings
  5. Cushionoid face
28
Q

______ is the hallmark signs of Becker’s MD.

A

CRAMPING

29
Q

List 6 secondary impairments associated with MD.

A
  1. Contractures
  2. Postural malalignment
  3. Atrophy/ pseudo-hypertrophy
  4. Decreased respiratory capacity
  5. Fatigability
  6. Occasional obesity
30
Q

List 7 general treatment goals to keep in mind when treating patients with MD.

A
  1. Maintain functional activities/ADLs/ community integration (employment & recreation)
  2. Prevent contractures
  3. Minimize handicaps
  4. Strengthening
  5. Seating/WC training
  6. Self-advocacy training
  7. Overall conditioning/ breathing program
31
Q

List 2 reasons why surgery may be performed to treat MD.

A
  1. Lengthening of the Achilles/TFL/ IT band

2. Stabilize spine secondary to scoliosis

32
Q

_____ is the gene missing from the sarcolemma membrane in both DMD and Becker’s MD, which increases ____.

A

Dystrophin

Increases cell permeability

33
Q

What is the second most common group of fatal recessive diseases after cystic fibrosis?

A

Spinal muscular atrophy

34
Q

List 2 characteristics of spinal muscular atrophy.

A
  1. Number of large anterior horn cells in the spinal cord is reduced leading to weakness
  2. Progressive degeneration of remaining cells is correlated with loss of function
35
Q

What is the mode of inheritance of spinal muscular atrophy?

A

Autosomal recessive with defect on chromosome 5

36
Q

What 2 signs will parents note in children with spinal muscular atrophy?

A
  1. Plateau in motor development

2. Later a regression of skills

37
Q

Describe the onset and course of Type I Werdnig-Hoffman (acute) spinal muscular dystrophy.

A

Onset: 0-3 months
Course: Rapidly progressive; death in first year

38
Q

Describe the onset and course of Type II Werdnig-Hoffman (chronic) spinal muscular dystrophy.

A

Onset: 3-4 months
Course: Rapid progression that stabilizes; shortened lifespan

39
Q

Describe the onset and course of Type III Kugelberg-Welander spinal muscular dystrophy.

A

Onset: 5-10 years
Course: Slowly progressive; Mild impairment, occasional scoliosis (20%)

40
Q

List 4 secondary impairments associated with spinal muscular dystrophy.

A
  1. Atrophy
  2. Fatigue
  3. Contracture
  4. Postural malalignment/ deformity
41
Q

List 3 interventions used to treat respiratory symptoms in spinal muscular dystrophy.

A
  1. Postural drainage (type I)
  2. Assisted coughing in late stages
  3. Elastic binder in sitting/TLSO (in debate)

Pediatrics (SE) (18 decks)

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