Neuromuscular Diseases Flashcards
List 4 similarities between muscular dystrophy and spinal muscular atrophy.
- Both diseases are inherited and acquired disorders of the motor unit or the LMN
- Progressive neuromuscular diseases that result in progressive weakness
- Death is usually a result of respiratory complications
(Occasionally cardiac failure) - No known cure
All forms of muscular dystrophy are caused by _____.
Genetic inheritance
What is the underlying pathophysiology of muscular dystrophy?
Weakness secondary to progressive loss of muscle contractility due to destruction of myofibrils.
List 4 ways that a diagnosis of muscular dystrophy is confirmed.
- Clinical exam
- EMG
- Lab procedures (DNA, selected enzyme levels)
- Muscle biopsy
____ is commonly below average in individuals with muscular dystrophy, so significant _____ impairment is not unusual.
IQ
Intellectual
_____ is a hallmark sign/functional limitation of MD.
Progressive disability
List the 6 criteria for MD classification.
- Mode of inheritance
- Age of onset
- Rate of progression
- Localization of involvement
- Muscle morphologic changes
- Associated involvement of other organ systems
What is a Gower maneuver?
Patient uses hands and arms to walk up their legs to stand
Indicative of lack of proximal strength and control
______ is the most common type of MD.
Duchene
Describe the onset, age of diagnosis, inheritance, and course of Duchene’s MD.
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
Describe the onset, age of diagnosis, inheritance, and course of Becker’s MD.
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
Children with Duchenne’s MD tend to be ____ and have low ____.
Overweight
Low IQ
List 3 secondary complications associated with Duchenne’s MD.
Musculoskeletal
Pulmonary
Skeletal (scoliosis)
What are the 2 causes of death in patients with Duchenne’s MD?
70% respiratory
30% cardiac
What 4 muscle groups are weak in patients with Duchenne’s MD?
Neck flexors
Intrascapular muscles
Abdominals
Hip extensors
List the pattern and progression of contractures in Duchenne’s MD. (6)
Tendo-Achilles Ilio-tibial band Hip flexors Hamstrings Elbow flexors Wrist flexors
Early phase DMD ranges from ___ years until ____ years and is marked by ____.
Ranges from 2-6 years until 6-10 years
Marked by functional losses
List 5 therapy considerations used to treat children in the early phase of DMD.
- Enhance strength thru games and functional activities
- Coordination and balance
- Flexibility esp. Achilles, hip flexors, IT band
- Orthotics (AFOs/night splinting, shoe orthoses)
- Never use food as a reward
List 3 characteristics of the transitional phase of DMD.
- From 6-12 years
- Onset of marked postural adjustments, muscle weakness, and functional losses
- Strength patterns (Biceps > triceps, supinators > pronators, hand/wrist extensors > flexors)
List 7 therapy considerations used to treat children in the transitional phase of DMD.
- Promote activity without causing fatigue
- Coordination and balance
- Flexibility
- Orthotics (AFOs, full leg orthoses, elbow orthoses)
- Begin respiratory exercises
- Look into house modification
- Referral for scoliosis check by orthopedist
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.
8-14 years
90% of day in W/C or scooter
Children in the loss of ambulatory function phase of DMD should be evaluated by a PT/OT every ____.
2 months
List 8 therapy considerations used to treat children in the loss of ambulatory AND adult phases of DMD.
- Maintain strength via AAROM
- Maintain flexibility
- Swimming
- Promote good alignment (trunk support, orthoses)
- Position in all settings
- Orthotics (AFOs, back bracing, splints)
- Adaptive equipment (lap tray, standing table, lift for transfers)
- MD monitors scoliosis, respiratory functions
List 3 characteristics of the adult phase of DMD.
- Age 15+
- Myocardium deteriorates along with the skeletal muscle.
- Risk of heart attack increases although most young men die from respiratory complications/failure
_____ and ____ are used to treat DMD.
Steroids (deflazacort/ prednisone)
Molecular therapeutics
Steroids may increase _____ and slow down ____.
Increase time ambulating
Slow down progression
List 5 side effects associated with steroid use.
- Cataracts
- Increased fractures
- Increased weight
- Mood swings
- Cushionoid face
______ is the hallmark signs of Becker’s MD.
CRAMPING
List 6 secondary impairments associated with MD.
- Contractures
- Postural malalignment
- Atrophy/ pseudo-hypertrophy
- Decreased respiratory capacity
- Fatigability
- Occasional obesity
List 7 general treatment goals to keep in mind when treating patients with MD.
- Maintain functional activities/ADLs/ community integration (employment & recreation)
- Prevent contractures
- Minimize handicaps
- Strengthening
- Seating/WC training
- Self-advocacy training
- Overall conditioning/ breathing program
List 2 reasons why surgery may be performed to treat MD.
- Lengthening of the Achilles/TFL/ IT band
2. Stabilize spine secondary to scoliosis
_____ is the gene missing from the sarcolemma membrane in both DMD and Becker’s MD, which increases ____.
Dystrophin
Increases cell permeability
What is the second most common group of fatal recessive diseases after cystic fibrosis?
Spinal muscular atrophy
List 2 characteristics of spinal muscular atrophy.
- Number of large anterior horn cells in the spinal cord is reduced leading to weakness
- Progressive degeneration of remaining cells is correlated with loss of function
What is the mode of inheritance of spinal muscular atrophy?
Autosomal recessive with defect on chromosome 5
What 2 signs will parents note in children with spinal muscular atrophy?
- Plateau in motor development
2. Later a regression of skills
Describe the onset and course of Type I Werdnig-Hoffman (acute) spinal muscular dystrophy.
Onset: 0-3 months
Course: Rapidly progressive; death in first year
Describe the onset and course of Type II Werdnig-Hoffman (chronic) spinal muscular dystrophy.
Onset: 3-4 months
Course: Rapid progression that stabilizes; shortened lifespan
Describe the onset and course of Type III Kugelberg-Welander spinal muscular dystrophy.
Onset: 5-10 years
Course: Slowly progressive; Mild impairment, occasional scoliosis (20%)
List 4 secondary impairments associated with spinal muscular dystrophy.
- Atrophy
- Fatigue
- Contracture
- Postural malalignment/ deformity
List 3 interventions used to treat respiratory symptoms in spinal muscular dystrophy.
- Postural drainage (type I)
- Assisted coughing in late stages
- Elastic binder in sitting/TLSO (in debate)
