Neuromuscular Diseases Part 2 Flashcards
What is muscle dystrophy?
group of myopathies that is progressive and inherited
What is the difference between neuropathy and myopathy for NMD?
neuro- anterior horn cell or peripheral nerves
myo- disease process in muscle, metabolic dz
What is the pathophysiology of muscular dystrophies?
progressive loss of ms contractility due to destruction of myofibrils
What age of onset for Duchenne ?
2-6 years old with life expectancy of 19 years
What are characteristics of Duchenne?
general ms weakness and wasting beginning in UE then to LE then all voluntary ms
mainly affects boys
What is pathophysiology of Duchenne?
failure of chromosome to make dystrophin which leads to destruction of muscle leading to decrease contractility and tearing of ms releasing CK and myoglobin into surrounding tissues
What are early signs and sx?
none at birth, but will then walk later, pseudo hypertrophy, loss of ROM after 5, clumsy awkward gait, lateral sway
When does the 1st activity limitations usually occur with Duchenne?
6-8 years old trouble with stairs, Gower’s sign with sit to stand, decline in vital capacity
What are progressive gait changes at age 6-8?
increased lateral trunk sway, toe walking, scap retraction
What happens with pts with Duchennes in the adolescent years?
progrssive weakness of trunk, hip shoulders, progression of contractors, scoliosis, become non ambulatory
What are examples of ms imbalances with Duchenne?
posterior hip weakness leads to lumbar lordosis and scap retraction in standing
quad weakness- genu recuvartum
PF contractures
What are three criteria for predicting termination of ambulation?
- decline in strength- 50% decrease of LE strength, HF below 3/5 or ankle DF 4/5
- decreased stair climbing speed
- combined knee extension lag or hip extension lag
If a patient has a knee and hip extension lag greater than 90 what does that mean for ambulation?
will be non ambulatory in a few months
What is progression of UE weakness?
scap stabilizers then biceps/brachioradialis then triceps
leads to loss to ADL loss
When does diaphragm weakness begin?
10- 12 years
What is pathology of spinal muscular atrophy?
abnormal large AHC, # of cells decreased, progressive loss that is inherited
What are 4 types of SMA?
Type 1. Werding hoffman
- chronic SMA
- Kugelberg- Werlander
- Adult
What is SMA type 1?
significant weakness at birth, absent DTR, severe ms wasting severe delay
death within 1 year
When is the onset of type 2 SMA?
infancy but less severe
What are 3 levels of type 2 SMA?
mild- Ind ambulation until 10
intermediete- Ind sit but no ambulation
Severe- Dept sitting
proximal to distal, 70% live to young adulthood
What is the onset of type 3 SMA?
some signs before 12 months but usually 5-10 years
proximal LE then UE
What is function level with SMA type 3?
varies but initial limitations around 10 trouble with stairs and keeping up with peers
ambulation into 30’s-40’s
What is life expectancy of type 3 SMA?
full life expected
What is a common functional motor scale used with SMA?
Hammersmith Functional motor scale
What are scales usually used with toddlers and infants?
Bayley scales of development, TIMP or CHOP INTEND, Alberta Infant motor scales
What are scales that are patient reported?
PEDI (pediatric evaluation disability inventory), PEDI-CAT, omni scale (RPE), school function assessment
What are PT interventions used for NMD?
therex, airway clearance, functional training, manual therapy, patient education
What are examples of therex?
progloned stretching, minimum of 4-6 days per week, submax aerobic exercise, swimming
What should you avoid with NMD pts?
high resistance training could lead to contraction induced muscle injury
if pain after modify and rest for tx
