NM Disorders Flashcards
(34 cards)
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
Duchenne MD
- not walking by 18 mos = red flag
What enzyme do people with DMD lack?
dystrophin
What is the significance of decreased dystrophin enzyme?
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
What are symptoms of DMD?
- Delay in walking
- Difficulty getting off the floor; Gower’s sign
- Clumsiness or frequent falling
- Pseudohypertrophy of the calves; Firm to palpation; decreased necrosis
How is DMD diagnosed?
Based on clinical examination:
- EMG
- Muscle Biopsy
- DNA Analysis
- Laboratory Blood Tests
What is the role of the PT in DMD?
- Identify impairments in body structure and function
- Promote activity and participation - MDA camp
- Prevent secondary complications
- Education
What are secondary impairments of DMD?
- Development of contractures
- Postural misalignment - Especially in anti-gravity positions
- Development of Scoliosis
- Decreased respiratory capacity
- Fatigue
- Obesity
- Mild Intellectual Impairments or Learning Difficulties
What is the role of the PT in educating about signs that precurse declines in function and increases in disability?
- Loss of ambulation
- Accommodation for adaptive equipment
- Transition from educational to vocational environment
- Decisions regarding mechanical ventilation
MD type: onset 1-4 years; X-linked; Rapidly progressive; loss of walking by 9-10 years; death in late teens
Duchenne’s
MD type: onset 5-10 years; X-linked; Slowly progressive; maintain walking past early teens; life span into third decade
Becker’s
MD type: onset at birth; Recessive; Typically slow, but variable, shortened life span
Congenital
MD type: onset at birth; Dominant; Typically slow with significant intellectual impairment
Congenital myotonic
MD type: onset in first decade; Dominant/Recessive; Slowly progressive loss of walking in later life, variable life expectancy
Child-onset Facioscapulohumeral
MD type: onset in childhood to early teens; x-linked; Slowly progressive with cardiac abnormality and normal life span
Emery-dreifuss
What are primary impairments of MD?
- Muscle Weakness secondary to progressive loss of myofibrils
- Contractures from birth - Congenital; Congenital Myotonic
What are goals of treatment for MD?
- Promote independence
- Slow progression
- Improve quality of life
What are pharmacologic management of DMD?
- Use of steroids
- Experimental use of stem cells
- Experimental gene replacement therapy
What is medical management of DMD?
- Steroids (weak evidence for creatinine use)
- Surgical contracture management
- Conservative management of scoliosis through bracing
What are side effects of steroid use?
- Weight Gain
- Growth Suppression
- Osteoporosis
What are impairments seen with DMD?
- Initial weakness occurs in the neck flexors, abdominals, interscapular, and hip extensor muscles
- Generally, as the disease progresses weakness moves from a proximal to distal pattern
- MMT Dynamometry can be used to predict loss of ambulation
- Timed functional activities have been correlated with strength - 5x STS, 3/6/9 min walk test, TUG, TU from floor, gait speed
What posture abnormalities do you see with DMD?
- increased lordosis - due to ab weakness
- compensatory winging of scap - maintains COM post to hip
- onset of scoliosis usually just before adolescence - affects 75-90% of non-ambulatory
Would you use an orthotic in a child with DMD?
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
What are the grades for functional ability on vignos scale: UEs?
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
What are the grades for functional ability on vignos scale: LEs?
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
