Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pediatrics > NM Disorders > Flashcards

NM Disorders Flashcards

1
Q

Most common MD (I in 3500 live births); X-linked recessive; occurs directly in the muscle; diagnosed typically at 5 years, initial sx at 2.5; life span = 20-30 years

A

Duchenne MD

- not walking by 18 mos = red flag

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What enzyme do people with DMD lack?

A

dystrophin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the significance of decreased dystrophin enzyme?

A

Decreased enzyme = fragile structure and cannot repair

  • you do not want to fatigue m’s so breakdown does not occur
  • causes calcium channel leaks with unstable musculature
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are symptoms of DMD?

A
  1. Delay in walking
  2. Difficulty getting off the floor; Gower’s sign
  3. Clumsiness or frequent falling
  4. Pseudohypertrophy of the calves; Firm to palpation; decreased necrosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How is DMD diagnosed?

A

Based on clinical examination:

  1. EMG
  2. Muscle Biopsy
  3. DNA Analysis
  4. Laboratory Blood Tests
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the role of the PT in DMD?

A
  1. Identify impairments in body structure and function
  2. Promote activity and participation - MDA camp
  3. Prevent secondary complications
  4. Education
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are secondary impairments of DMD?

A
  1. Development of contractures
  2. Postural misalignment - Especially in anti-gravity positions
  3. Development of Scoliosis
  4. Decreased respiratory capacity
  5. Fatigue
  6. Obesity
  7. Mild Intellectual Impairments or Learning Difficulties
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the role of the PT in educating about signs that precurse declines in function and increases in disability?

A
  1. Loss of ambulation
  2. Accommodation for adaptive equipment
  3. Transition from educational to vocational environment
  4. Decisions regarding mechanical ventilation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

MD type: onset 1-4 years; X-linked; Rapidly progressive; loss of walking by 9-10 years; death in late teens

A

Duchenne’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

MD type: onset 5-10 years; X-linked; Slowly progressive; maintain walking past early teens; life span into third decade

A

Becker’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

MD type: onset at birth; Recessive; Typically slow, but variable, shortened life span

A

Congenital

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

MD type: onset at birth; Dominant; Typically slow with significant intellectual impairment

A

Congenital myotonic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

MD type: onset in first decade; Dominant/Recessive; Slowly progressive loss of walking in later life, variable life expectancy

A

Child-onset Facioscapulohumeral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

MD type: onset in childhood to early teens; x-linked; Slowly progressive with cardiac abnormality and normal life span

A

Emery-dreifuss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are primary impairments of MD?

A
  1. Muscle Weakness secondary to progressive loss of myofibrils
  2. Contractures from birth - Congenital; Congenital Myotonic
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are goals of treatment for MD?

A
  1. Promote independence
  2. Slow progression
  3. Improve quality of life
17
Q

What are pharmacologic management of DMD?

A
  1. Use of steroids
  2. Experimental use of stem cells
  3. Experimental gene replacement therapy
18
Q

What is medical management of DMD?

A
  1. Steroids (weak evidence for creatinine use)
  2. Surgical contracture management
  3. Conservative management of scoliosis through bracing
19
Q

What are side effects of steroid use?

A
  1. Weight Gain
  2. Growth Suppression
  3. Osteoporosis
20
Q

What are impairments seen with DMD?

A
  1. Initial weakness occurs in the neck flexors, abdominals, interscapular, and hip extensor muscles
  2. Generally, as the disease progresses weakness moves from a proximal to distal pattern
  3. MMT Dynamometry can be used to predict loss of ambulation
  4. Timed functional activities have been correlated with strength - 5x STS, 3/6/9 min walk test, TUG, TU from floor, gait speed
21
Q

What posture abnormalities do you see with DMD?

A
  1. increased lordosis - due to ab weakness
  2. compensatory winging of scap - maintains COM post to hip
  3. onset of scoliosis usually just before adolescence - affects 75-90% of non-ambulatory
22
Q

Would you use an orthotic in a child with DMD?

A

Floor reaction AFO if no knee flexion contracture present

  • AFO incr stress on quads
  • KAFO increases energy cost, taxing CV system
  • likely to lose ROM with gastroc/soleus complex first
23
Q

What are the grades for functional ability on vignos scale: UEs?

A 
1 = pt can ABD arms in full circle until they touch above head
2 = pt can rain arms above head only by flexing elbow
3 = pt cannot rain hands above head but can raise 8oz glass of water to mouth
4 = pt can rain hands to mouth but not a glass
5 = pt cannot rain hands to mouth but can hold a pen or pick up pennies from table
6 = pt cannot raise hands to mouth and has no useful function of the hands
24
Q

What are the grades for functional ability on vignos scale: LEs?

A 
1 = walks and climbs stairs w/o assistance
2 = walks and climbs stairs with the aid of a railing
3 = walks and climbs stairs slowly (>12s for 4 stairs) with the aid of a railing
4 = walks unassisted and rises from chair, but can't climb steps
5 = walks unassisted but cannot rise from chair or climb stairs
6 = walks with assistance or walks independently with long leg brace
7 = walks in long leg braces but requires assistance for balance
8 = stands in long leg braces but unable to walk
9 = in w/c
10 = confined to bed
25
Q

What assessment is used in DMD to indicate significant loss in of function?

A

North Star ambulatory assessment

26
Q

What kind of strengthening contraction should be avoided with DMD?

A

eccentric

27
Q

How can you predict the cessation of walking in DMD?

A
  • walking ceases around 10-12 years; predicted by 50% reduction in leg strength; mmt < 3 for hip ext and < 4 DF
  • cessation of walking w/in 2-2.5 years when 5-12s needed to ascend 4 steps
28
Q

SMA type: onset 0-3 months, recessive inheritance; Rapid Progression, Severe Hypotonia, Death <1 year old

A

Childhood-Onset Type I Werdnig-Hoffman (Acute)

- no ambulation

29
Q

SMA type: onset 3 months - 4 years, recessive inheritance; Rapid Progression followed by stabilization, Moderate to Severe Hypotonia, Decreased Life span

A

Childhood-Onset Type II Werdnig-Hoffman (Chronic)

- no ambulation

30
Q

SMA type: onset 5-10 years, recessive inheritance; Slowly Progressive, Mild Impairment

A

Juvenile-Onset, Type III Kugelberg-Welander

31
Q

Pathophysiology: Abnormality of the large anterior horn cells in the spinal cord resulting in progressive degeneration of the remaining cells and correlated loss in function secondary to significant weakness; Diagnosis: clinical examination, laboratory testing, EMG, muscle biopsy, and genetic testing

A

Spinal musclular atrophy

32
Q

What are primary impairments of SMA?

A
  1. Inconsistent cranial nerve involvement
  2. Contractures - Equinovarus
  3. Muscle fasciculations, especially of the tongue
  4. Impaired Strength - In Types I & II: Poor head control; Delayed motor milestone achievement
33
Q

What are secondary impairments of SMA?

A
  1. Scoliosis
  2. Contracture
  3. Decreased respiratory function
34
Q

What interventions are used for SMA?

A
  1. Prevent contractures - happen a lot quicker so adaptive equipment considered sooner
  2. position
  3. provide adaptive equipment - start power mobility at 18 mos
  4. work on strength in developmentally appropriate progressions
  5. teach compensatory strategies when needed - dependent in transfers

Pediatrics (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions