Neuromuscular Diseases

Question 1

List 4 similarities between muscular dystrophy and spinal muscular atrophy.

Answer 1

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

Question 2

All forms of muscular dystrophy are caused by _____.

Answer 2

Genetic inheritance

Question 3

What is the underlying pathophysiology of muscular dystrophy?

Answer 3

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

Question 4

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

Answer 4

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

Question 5

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

Answer 5

IQ

Intellectual

Question 6

_____ is a hallmark sign/functional limitation of MD.

Answer 6

Progressive disability

Question 7

List the 6 criteria for MD classification.

Answer 7

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

Question 8

What is a Gower maneuver?

Answer 8

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

Indicative of lack of proximal strength and control

Question 9

______ is the most common type of MD.

Answer 9

Duchene

Question 10

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

Answer 10

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

Question 11

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

Answer 11

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

Question 12

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

Answer 12

Overweight

Low IQ

Question 13

List 3 secondary complications associated with Duchenne’s MD.

Answer 13

Musculoskeletal
Pulmonary
Skeletal (scoliosis)

Question 14

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

Answer 14

70% respiratory

30% cardiac

Question 15

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

Answer 15

Neck flexors
Intrascapular muscles
Abdominals
Hip extensors

Question 16

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

Answer 16

Tendo-Achilles
Ilio-tibial band
Hip flexors
Hamstrings
Elbow flexors
Wrist flexors

Question 17

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

Answer 17

Ranges from 2-6 years until 6-10 years

Marked by functional losses

Question 18

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

Answer 18

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

Question 19

List 3 characteristics of the transitional phase of DMD.

Answer 19

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)

Question 20

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

Answer 20

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

Question 21

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.

Answer 21

8-14 years

90% of day in W/C or scooter

Question 22

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

Answer 22

2 months

Question 23

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

Answer 23

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

Question 24

List 3 characteristics of the adult phase of DMD.

Answer 24

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

Question 25

_____ and ____ are used to treat DMD.

Answer 25

Steroids (deflazacort/ prednisone) Molecular therapeutics

Question 26

Steroids may increase _____ and slow down ____.

Answer 26

Increase time ambulating | Slow down progression

Question 27

List 5 side effects associated with steroid use.

Answer 27

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

Question 28

______ is the hallmark signs of Becker's MD.

Answer 28

CRAMPING

Question 29

List 6 secondary impairments associated with MD.

Answer 29

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

Question 30

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

Answer 30

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

Question 31

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

Answer 31

1. Lengthening of the Achilles/TFL/ IT band | 2. Stabilize spine secondary to scoliosis

Question 32

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

Answer 32

Dystrophin | Increases cell permeability

Question 33

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

Answer 33

Spinal muscular atrophy

Question 34

List 2 characteristics of spinal muscular atrophy.

Answer 34

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

Question 35

What is the mode of inheritance of spinal muscular atrophy?

Answer 35

Autosomal recessive with defect on chromosome 5

Question 36

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

Answer 36

1. Plateau in motor development | 2. Later a regression of skills

Question 37

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

Answer 37

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

Question 38

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

Answer 38

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

Question 39

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

Answer 39

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

Question 40

List 4 secondary impairments associated with spinal muscular dystrophy.

Answer 40

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

Question 41

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

Answer 41

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