10-15 NM Disorders: MUscular Dystrophies, Myopathy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Flashcards
1
Q
NM Disorders: General
A
- Common feature: muscle weakness in muscle itself or anterior horn
- Genetic or acquired
- Affects any part of motor activity
2
Q
Muscular Dystrophies
A
- Group of muscle diseases that are genetically determined
- No significant change in CNS (motor/sensory tracts undamaged
- Genetic
- Progressive degenerative disorders
3
Q
Duchenne Muscular Dystrophy (DMD)
A
- Psuedo Hypertrophic Muscular Dystrophy, or Progressive Muscular Dystrophy
- Only affects males
- Muscle cell necrosis: Unknown cause, but lack of dystrophin causes muscles to be susceptible to tears
- Progressive weakness
4
Q
Diagnosis of DMD (biopsy)
A
- Degenerating fibers
- Regenerating fibers
- Inflammatory by-products
- Adipose cells in connective tissue
5
Q
Dystrophin
A
- Protein that gives stability to muscle membrane
6
Q
Onset of DMD
A
- Gradual insidious onset
- Symptoms begin between 2-5 years old
- Reluctance to walk/run
- Falling
- Difficulty getting up from floor
- Toe walking
- Clumsiness
- Muscle size appears to increase
7
Q
Pseudo-hypertrophy
A
- Deposition of adipose cells in connective tissue, including muscle
- Muscle look strong, big, firm, but not
Common muscles: gastrocnemius (most notable), infraspinatus, deltoid
8
Q
DMD Muscle Weakness progression
A
- Proximal to distal: Proximal muscles weaker earlier and progress faster
- Exaggerated lumbar lordosis
- Waddling Gait (Shortened ITB, broad BOS during amb, glute max weakness)
- Gower Sign (Hallmark sign): “Climbing up legs”
- Tightness/contractures (ITB, Hip/knee flexion, PF, Foot inversion)
- Loss of ROM (contractures, more time sitting)
- Perform functional activities more slowly
9
Q
DMD Degenerative Milestones
A
- 2-5 yo: Symptoms begin
- 9-10 yo: Loss of unassisted ambulation
- 12-13 yo: Complete loss of ambulation
- 6-7 yo: Climbing stairs
10
Q
DMD Body Systems
A
- Scoliosis: back muscle weakness, more sitting, noticed after 11 yo; positional to fixed
- Respiratory: Muscle weakness, atrophy, ineffective cough can lead to increased infections; too much CO2 = excessive fatigue, daytime sleepiness, headaches, sleep disturbances
- GI: Muscle involvement, constipation. Pseudo-obstruction can cause sudden vomiting, ab pain, distention
- Cardiac: Cardio myopathy, Arrhythmias - due to dystrophin deficiency, CHF
- Cognition: Intellectual impairment, emotional disturbance, not progressive, not related to level of disease, may hinder development
11
Q
DMD Medical Interventions
A
- Spinal fixation for scoliosis
- Scoliosis greater than 30˚
- Especially for pt restricted to w/c
12
Q
DMD PT Interventions
A
- Treat symptom, not disease
- Weakness
- AROM/PROM
- Locomotion
- Functional abilities and ADLs
- Pulmonary function
- Emotional trauma: pt and family
- Scoliosis
- Pain
13
Q
DMD PT Goals
A
- Prevent deformity
- Prolioing functional capacity
- Improve pulmonary function
- Facilitate development of family support/others
- Control pain
14
Q
DMD ROM and Preventing Deformity
A
- Stretching
- NIght splints
- Develop scoliosis with convexity toward dominant extremity
- Post-op: promote upright and walking when cleared
- Bracing
- Serial casting
15
Q
DMD Srengthening
A
- Allow child to self-limit and rest to prevent fatigue
- Strengthen early
- Endurance exercises (Swimming)
16
Q
DMD Locomotion
A
- Ambulation: Improve stability (stride length, BOS), bracing
- W/C: When amb difficult, falls increase, easily fatigue
- Consider power w/c, scooters
17
Q
DMD ADLs
A
- Can consult OT for ADLs
- Improve function, assess and re-assess
18
Q
DMD Respiratory
A
- Best in upright position
- Shallow breathing (Test with pulmonary function test)
- Weakness of diaphragm, trunk, abdominal muscles
- PT interventions: Encourage deep breathing, bronchial drainage, chest percussion, assisted cough
19
Q
DMD Pain Management
A
- Minimized with good PT interventions (stretching, positioning)
- Results from impaired ROM 2˚ contractures
- Incorporate positioning techniques to minimize pain
20
Q
Myotonic Dystrophy (MTD)
A
- Increased muscular irritability and contractility
- Decreased power of relaxation
- Chromosome 19
- Symptoms first noticed in adolescence
21
Q
MTD General
A
- Myotonia: Delay in muscle relaxation time
- Muscle weakness, then stiffness
22
Q
MTD Muscular PRogression
A
- Distal to proximal; Distal weakness and wasting first
- Wasting and weakness of SCM
- Temporal and masseter muscle wasting = long, thin face
23
Q
MTD Characteristics
A
- Long, thin face
- Frontal balding
- Muscular hypoplasia (incomplete development)
- Mental retardation
- Cataracts
- Numerous endocrine problems
- Decreased respiratory drive
- High neonatal mortality
24
Q
MTD Intervention
A
- Reduce distal wasting
- Reduce weakness
- Control spinal deformities
25
Q
Limb-Girdle Muscular Dystrophy (LGMD)
A
- Group of progressive muscular dystrophies
- Affect proximal muscles (to distal)
- Onset is childhood to adulthood
26
Q
LGMD Intervention
A
- Maintain muscle length: ROM, anticipate dev of contractures, dynamic/static resting splints
- Muscle endurance: Avoid eccentric and strengthening exercises; swimming is considered
27
Q
Congenital Muscular Dystrophy
A
- Fukuyama CMD: Kid walk by childhood; die from resp failure
- Walker-Warburg Syndrome: More severe, child dies by age 3
28
Q
Congenital Myopathy
A
- Muscle weakness and atrophy
- Apparent at birth or sx onset in adulthood
- Limits locomotion, respiratory capacity, may have fracture at birth and/or “arthyrogryposis”
29
Q
Charcot-Marie-Tooth (CMT)
A
- Slow progressive neuropathy
- Affects distal musculature of feet, lower legs, hands, forearms
- Affects peripheral nerves
- Sensory loss, weakness, wasting away
30
Q
CMT Presentation
A
- Foot drop
- Weakness in hands and arms
- Contractures in feet
- Contractures of long finger flexors
- Distal decreased sensation to heat, touch, pain
31
Q
CMT Intervention
A
- Strength: Resistance training
- ROM: Stretching, night splints, serial casting, surgical intervention to fix deformities
- Gait: Orthotics, Bracing
- Function
