Neuromuscular Diseases Part 2

Question 1

What is muscle dystrophy?

Answer 1

group of myopathies that is progressive and inherited

Question 2

What is the difference between neuropathy and myopathy for NMD?

Answer 2

neuro- anterior horn cell or peripheral nerves

myo- disease process in muscle, metabolic dz

Question 3

What is the pathophysiology of muscular dystrophies?

Answer 3

progressive loss of ms contractility due to destruction of myofibrils

Question 4

What age of onset for Duchenne ?

Answer 4

2-6 years old with life expectancy of 19 years

Question 5

What are characteristics of Duchenne?

Answer 5

general ms weakness and wasting beginning in UE then to LE then all voluntary ms

mainly affects boys

Question 6

What is pathophysiology of Duchenne?

Answer 6

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

Question 7

What are early signs and sx?

Answer 7

none at birth, but will then walk later, pseudo hypertrophy, loss of ROM after 5, clumsy awkward gait, lateral sway

Question 8

When does the 1st activity limitations usually occur with Duchenne?

Answer 8

6-8 years old trouble with stairs, Gower’s sign with sit to stand, decline in vital capacity

Question 9

What are progressive gait changes at age 6-8?

Answer 9

increased lateral trunk sway, toe walking, scap retraction

Question 10

What happens with pts with Duchennes in the adolescent years?

Answer 10

progrssive weakness of trunk, hip shoulders, progression of contractors, scoliosis, become non ambulatory

Question 11

What are examples of ms imbalances with Duchenne?

Answer 11

posterior hip weakness leads to lumbar lordosis and scap retraction in standing

quad weakness- genu recuvartum

PF contractures

Question 12

What are three criteria for predicting termination of ambulation?

Answer 12

1. decline in strength- 50% decrease of LE strength, HF below 3/5 or ankle DF 4/5
2. decreased stair climbing speed
3. combined knee extension lag or hip extension lag

Question 13

If a patient has a knee and hip extension lag greater than 90 what does that mean for ambulation?

Answer 13

will be non ambulatory in a few months

Question 14

What is progression of UE weakness?

Answer 14

scap stabilizers then biceps/brachioradialis then triceps

leads to loss to ADL loss

Question 15

When does diaphragm weakness begin?

Answer 15

10- 12 years

Question 16

What is pathology of spinal muscular atrophy?

Answer 16

abnormal large AHC, # of cells decreased, progressive loss that is inherited

Question 17

What are 4 types of SMA?

Answer 17

Type 1. Werding hoffman

2. chronic SMA
3. Kugelberg- Werlander
4. Adult

Question 18

What is SMA type 1?

Answer 18

significant weakness at birth, absent DTR, severe ms wasting severe delay

death within 1 year

Question 19

When is the onset of type 2 SMA?

Answer 19

infancy but less severe

Question 20

What are 3 levels of type 2 SMA?

Answer 20

mild- Ind ambulation until 10
intermediete- Ind sit but no ambulation
Severe- Dept sitting

proximal to distal, 70% live to young adulthood

Question 21

What is the onset of type 3 SMA?

Answer 21

some signs before 12 months but usually 5-10 years

proximal LE then UE

Question 22

What is function level with SMA type 3?

Answer 22

varies but initial limitations around 10 trouble with stairs and keeping up with peers

ambulation into 30’s-40’s

Question 23

What is life expectancy of type 3 SMA?

Answer 23

full life expected

Question 24

What is a common functional motor scale used with SMA?

Answer 24

Hammersmith Functional motor scale

Question 25

What are scales usually used with toddlers and infants?

Answer 25

Bayley scales of development, TIMP or CHOP INTEND, Alberta Infant motor scales

Question 26

What are scales that are patient reported?

Answer 26

PEDI (pediatric evaluation disability inventory), PEDI-CAT, omni scale (RPE), school function assessment

Question 27

What are PT interventions used for NMD?

Answer 27

therex, airway clearance, functional training, manual therapy, patient education

Question 28

What are examples of therex?

Answer 28

progloned stretching, minimum of 4-6 days per week, submax aerobic exercise, swimming

Question 29

What should you avoid with NMD pts?

Answer 29

high resistance training could lead to contraction induced muscle injury

if pain after modify and rest for tx