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Neuromuscular Disorders Flashcards

(53 cards)

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1
Q

what structures may be affected in neuromuscular disorders

A
  • anterior horn cell
  • peripheral nerve
  • muscle
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2
Q

what is common to all neuromuscular disorders

A

muscle weakness leading to loss of function and potential physical deformity

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3
Q

T or F: neuromuscular disorders may be hereditary or acquired

A

T

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4
Q

muscular dystrophies are a group of _______

A

myopathies

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5
Q

in myopathies, the pathology is in the…

A

muscle tissue

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6
Q

dystrophinopathies

A
  • deficient dystrophin
  • duchenne’s and becker’s muscular dystrophy
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7
Q

sarcoglycanopathies

A
  • deficient sarcoglycans
  • limb muscle dystrophies
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8
Q

laminin deficiency

A

congenital muscular dystrophy

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9
Q

in neuropathies the pathology is in the… (2)

A
  • anterior horn cell (spinal muscular atrophy)
  • peripheral nerve (charcot-marie-tooth)
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10
Q

are muscle dystrophies genetic? are they progressive?

A

yes and yes

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11
Q

how are muscular dystrophies classified

A

clinical presentation and mode of inheritance/gene deficiency

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12
Q

what is the most prevalent muscular dystrophy

A

duchenne’s (AKA: pseudohypertrophic)

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13
Q

how is DMD inherited

A

x-linked recessive

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14
Q

T or F: females with DMD mutation are typically asymptomatic

A

T

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15
Q

what makes beckers MD different from DMD

A

it progresses at a much slower rate because some dystrophin is produced
*symptoms appear at 5-15 (maybe even 20-30s)

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16
Q

life expectancy from BMD? how long can they maintain independent ambulation

A

30-40 y/o
15 y/o

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17
Q

pathophysiology of DMD/BMD

A

lack of dystrophin > sarcolemmal instability > membrane microtears > calcium channels leak > increased intracellular calcium > muscle cell necrosis

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18
Q

what can worsen membrane microtears in DMD/BMD

A

muscle contraction

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19
Q

how to diagnoses DMD/BMD (4)

A
  • clinical signs
  • high serum creatine kinase
  • EMG
  • muscle biopsy
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20
Q

what will you see on a muscle biopsy of someone with muscular dystrophy

A
  • degenerating of regenerating fibers
  • lack of dystrophin
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21
Q

when do MSK symptoms of DMD start to appear

A

2-5 y/o
*earliest signs of DMD

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22
Q

what are some MSK symptoms of DMD

Study These Flashcards
A
  • falling/clumsy
  • toe walking
  • difficulty with stairs
  • reluctance to walk/run
  • difficulty getting off floor
  • pseudohypertrophy of gastrocs, infraspinatus, and delts
23
Q

gower’s sign

Study These Flashcards
A

when asked to get up from sitting on floor, child will mvoe hands on legs as though crawling up to the thighs and then assume a standing position

24
Q

T or F: DMD is often misdiagnosed intially

25
does weakness from DMD start in proximal or distal muscles
- proximal - esp neck flexors, hip abd/ext/flex and knee ext
26
T or F: weakness in DMD is steadily progressive
T: but function/activity may not always decline from one exam to the next
27
what may you notice about gait and posture in a child with DMD
- increased lumbar lordosis - UE mid-guard - increased BOS, decreased step length - waddling gait
28
typical contractures in boys with DMD
- hip flexors - ITBs - gastrocs *then with w/c use knee and elbow flexors
29
what causes scoliosis in DMD
starts as neuromusclar due to weaker back muscles and more time sitting but then becomes structural over time
30
most boys with MDM lose all walking skills by ______ years old
12-13
31
should you request a manual or power chair for a child with MDM and why
power because a manual requires repeated contractions
32
what is typically the cause of death in DMD
- respiratory and cardiac issues - respiratory musculature atrophies
33
T or F: muscles of the GI tract are affected in DMD
T
34
what cardiac complications do children with DMD often experience
- cardiomyopathy - arrhythmias - CHF
35
is cardiac or skeletal muscle affected first in DMD
skeletal
36
T or F: there is a high rate of intellectual impairments, reading difficulties, and attention/emotional differences in boys with DMD
T
37
T or F: cognitive impairments in DMD are progressive
F: also not related to severity of disease
38
life expectancy for DMD
25 years 30 years with excellent medical care
39
T or F: there is a treatment for DMD
F: there are many clinical trials (gene therapies)
40
what are some experimental treatments for DMD
- gene replacement - exon skipping - myostatin inhibitors - stem cells
41
what medication is often used in DMD
glucocorticoid corticosteroids (prednisone and deflazacort)
42
T or F: MMT should be a routine part of the PT exam/eval of a child with DMD. why or why not
T: after 1 year of serial MMT you can estimate the rate of progression to help predict when bracing and wheeled mobility will be needed
43
T or F: early loss of ambulation is usually due to muscle weakness in DMD
F: usually due to loss of ROM/contracture *so measure ROM well and often
44
what kind of exercise should you avoid in boys with MDM> what kind should you use instead?
- avoid max resistance and eccentric exercise - submaximal endurance training *important to avoid overuse
45
do limb girdle muscular dystrophies affect proximal or distal musculature
proximal - presentation is very variable and pathology is very heterogenous
46
how is myotonic dystrophy inherited
autosomal dominant chromosome 19
47
what are symptoms of myotonic dystrophy and when do they typically present
- myotonia (delayed muscle relaxation) - weakness - present in adolescence
48
with myotonic dystrophy, does weakness start proximally or distally
distal ex: foot drop, difficulty opening jars
49
are smooth and cardiac muscle involved in myotonic dystrophy
yes... death frequently due to cardiac/respiratory issues
50
the most severe form of myotonic dystrophy is noted at_______
birth
51
charcot-marie-tooth disease (CMT)
hereditary motor and sensory neuropathy - primarily in distal musculature of hands/feet
52
is charcot-marie-tooth progressive
yes
53
where is the defect most often with charcot-amrie-tooth
myelin - but sometimes it is in the axon itself

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