NMD Part 1

Question 1

what is neuromuscular disease

Answer 1

disorders of the motor neuron (ant horn cells and peripheral nerves), neuromuscular junction, and ms

Question 2

what dx are encompassed by the term NMD

Answer 2

dx that directly (myopathy) or indirectly (neuropathy) impair function of skeletal ms (primarily)

Question 3

what is myopathy

Answer 3

disorder of ms cells & fibers may be inherited or acquired

Question 4

what is Duchenne’s

Answer 4

genetic problem affecting dystrophin production which impacts the ms itself

Question 5

what are 4 inherited types of myopathies
* don’t need to memorize*

Answer 5

mitochondrial
congenital
metabolic
muscular dystrophies*

Question 6

what are 6 acquired types of myopathies
don’t need to memorize

Answer 6

1. autoimmune/inflammatory myopathy
2. toxic myopathy
3. endocrine myopathies
4. infectious myopathies
5. electrolyte imbalance
6. critical illness myopathy

Question 7

what is neuropathy

Answer 7

damage or disease of motor neurons in spinal cord and/or neuromuscular junction

Question 8

what is the etiology of neuropathies in NMD

Answer 8

genetic mutation OR spontaneous mutation that becomes genetic

no environmental component

Question 9

age of onset for dystrophies/neuropathies

Answer 9

infancy to adulthood

Question 10

what is the motor function of dystrophies/neuropathies

Answer 10

range from complete dependence to complete independence

Question 11

what is the progression of dystrophies/neuropathies

Answer 11

months to many years

Question 12

what is the heterogenous presentation of dystrophies/neuropathies

Answer 12

prox -> distal
distal -> prox
prox = distal

Question 13

what are 3 common s/sx (impairments) of dystrophies/neuropathies

Answer 13

1. weakness (dec strength)
2. exercise intolerance (dec endurance)
3. fatigue easily (ms fatigue)

Question 14

what are 4 secondary impairments to weakness d/t dystrophies/neuropathies

Answer 14

dec tone
atrophy
dec coordination
contractures

Question 15

what are 5 characteristics/sx of dystrophies/neuropathies

Answer 15

ms cramping
twitching
atrophy
joint pain
hypotonia

Question 16

dystrophies/neuropathies: progressive?

Answer 16

yes - varying rates

Question 17

what are 3 factors that the prognosis depends on

Answer 17

age of onset
type of NMD
motor function @ time of dx

Question 18

what is an activity that many patients will lose the ability of

Answer 18

ambulate (globally)

Question 19

what is the life expectancy

Answer 19

short to normal
- varies by dz & severity

Question 20

what is the cause of death typically in NMD

Answer 20

cardiopulmonary complications

Question 21

what is the goal of treatment

Answer 21

no cure - treatment to prolong life

Question 22

what are 6 red flags when screening NMD in children

Answer 22

CK levels elevated
tongue fasciculations
absent DTRs
(+) Gower’s sign
lack of development of major motor milestones
loss of motor milestones

Question 23

what is one of the first signs of NMD in children that is a red flag

Answer 23

tongue fasciculations

Question 24

what is the definition of the red flags identified when screening for NMD in children

Answer 24

related to a prompt referral, urgent (vs emergent)
- put a call to PCP when with them

does depend on presentation

Question 25

what management is required for NMD

Answer 25

multi-system management via multidisciplinary team

Question 26

what is the primary ongoing goal

Answer 26

maximize function over course of dz

Question 27

why are these patients seen in acute care setting

Answer 27

hospitalized w flare of sx or unknown dx

Question 28

what is the role of PT w these patients in a multidisciplinary clinic & frequency of visits

Answer 28

eval patient w other providers for a holistic approach
- once every 4-12mo

Question 29

why are these patients seen in a subacute rehab setting & frequency of PT sessions

Answer 29

typically following hospitalization
- ongoing nursing needs

couple wks duration
- ~3hr /day

Question 30

what are the 7 settings that NMD pts could see PTs in

Answer 30

acute care
multidisciplinary clinic
subacute rehab
outpatient center
school based services
home based
early intervention

Question 31

what ages are early intervention services provided

Answer 31

birth to 3mo

Question 32

why is PT implemented in a school-based setting

Answer 32

allow accessibility to academic setting

Question 33

what does outpatient center PT look like for these pts

Answer 33

cased dependent
- traditional
- aquatic therapy