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peripheral conditions Flashcards

1
Q

what are the 4 bases attached to DNA backbone

A
  1. adenine A
  2. Thymine T
  3. Guanine G
  4. Cytosine C
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2
Q

define heritability

A

-proportion of variation in the phenotype attributable to variation in genetic factors

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3
Q

what do genetic factors have a role in?

A
  • response to exericse; strength, motor control, stroke recovery
  • severity and progression of disease
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4
Q

define genetics

A

study of genes, heredity, genetic variation in living organism

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5
Q

define genomics

A

study of genomes or complete set of genetic material of an organism

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6
Q

what is a genome

A
  • consists of all of the DNA of the 23 chromosomes in nucleus
  • DNA on circular chromosomes of mitochondria
  • 3.1 billion bases make up human genome
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7
Q

define genotype

A

2 alleles an individual carries at a specific location in a gene

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8
Q

define phenotype

A

observable traits of the individual

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9
Q

define epigenetics

A

study of inheritable changes in the organisms caused by modification of gene expression

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10
Q

what are some epigenetic factors that influence health

A
  • aging
  • obesity
  • physical activity and exercise
  • smoking, drugs, alcohol
  • geographic variations
  • socioeconomic status
  • health disparities and inequities
  • social support
  • gender
  • race
  • ethnicity
  • LGBTQQ
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11
Q

what is myasthenia gravis

A
  • chornic peripheral autoimmune NM disease of NM jundction

- skeletal muscle wekeaness that worsens after periods of activity and improves after rest

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12
Q

what are signs of myasthenia gravis

A
  • diplopia
  • facial weakness
  • ptosis
  • dyphasgia, dysarthria
  • shortness of breath
  • weakness in neck, UE, LE
  • fatigue
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13
Q

what is limb girdle muscluar dystrophy (LGMD)

A

6/100,000

  • mutations in many diff genes that provide instructions for making proteins involved in muscle maintenance and repair
  • affects proximal muscles of U/LEs
  • many subtypes and varied presentations
  • some individuals may have cardiomyopathy
  • some may require ventilation
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14
Q

what is LGMD type 1

A

autosomal dominant inheritance

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15
Q

what is LGMD type 2

A

autosomal recessive inheritance

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16
Q

what are the early stages of LGMD

A
  • changes in walking (waddling, walking on balls of feet)

- hands on knees to transition from squat to stand

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17
Q

what are the late stages of LGMD

A

may require a wheelchair

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18
Q

what do both stages of LGMD display

A
  • scap winging
  • increasd lumbar lordosis
  • pseudohypertrophy of calf
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19
Q

what are the resistance training considerations in LGMD

A

-both higher and lower intensity may improve strength in arms over 6 months, unclear if function improves

20
Q

what are the aerobic trainng considerations in LGMD

A

-may improve aerobic capacity and walkign

21
Q

what is fascioscapularhumeral muscular dystrophy (FSHD)?

A

4-10/100,000

  • facial, scapular, humeral muscles affected
  • FSHD1 95% of cases
  • autosomal dominant inheritance- genetic counseling recommended
  • sypmtoms usually before age 20
  • life expectancy not shortened
22
Q

what is FSHD management?

A
  • pulm function testing
  • testing for rential and hearing problems
  • speech teherapy
  • as disease progresses, more muscles affected
  • hamstring and trunk affected early
  • maintain muscle flexilibty and minimize atrophy
  • manage pain
  • gait aids, wheeled mobility, orthotics/AFO
23
Q

what kind of conduction does very thick myelin have?

A

very fast

24
Q

what kind of conduction does thick myelin have?

A

fast

25
Q

what kind of conduction does thin myelin have?

A

slow

26
Q

what kind of conduction does no myelin have?

A

very slow

27
Q

what makes myelin in the PNS?

A

schawnn cells

28
Q

what makes myelin in the CNS?

A

oligodendroycytes

29
Q

what is neurapraxia

A

temporary failure of nerve conduction without structural changes

  • usually caused by blunt trauma, pressure, ischemia
  • axon remains in tact and muscle does not atrophy
30
Q

what is axonotmesis

A

axon damaged due to crush, stretch, lacerating injury or disease process
-connective tissue remains intact

31
Q

what is neurotmesis

A

most severe axonal loss with complete severance of axon and its connective tissue coverings

32
Q

what is bells palsy CN VII

A
  • differentiate from stroke
  • urgent medical care needed
  • devleops overnight
  • 71% full recovery
33
Q

what is trigeminal neuralgia CN V

A
  • brief, intense shock like bursts of pain within distribution of the nerve
  • pain control needed
  • could be related to herpes, inflamm reactions, tumors
34
Q

what are some infectious diseases

A

polio

post-poliio syndrome

35
Q

what are some immune-mediated, inflamm conditions

A

guilliarn barre

36
Q

what are metabolic conditions

A

diabetic neuropathy

37
Q

what are hereditary conditions

A

charcot-marie tooth disease

38
Q

what is GBS/acute inflammatory demyelinating polyneuropathy (AIDP)

A
  • most common cause of rapidly evolving motor paresis, paralysis and sensory deficits
  • bacterial and viral infection, surgeries and vaccines implicated
  • up to 90% individuals with GBS had a respiratory or GI illness in 30 days preceding symptoms
  • GBS is immune-mediated disorder
  • schwann cells primary targets of attack
  • axonal involvement can involve motor fibers only or motor and sensory fibers
39
Q

what are signs/smpytoms of GBS/AIDP?

A
  • first is often paresthesia in toes, followed within hours or days by weakness in legs
  • weakness and sensory loss that is symetric and distal to prox
  • weakness spreads to involve arms, trunk, face muscles
  • flaccid paralysis accomponied by absence of DTRs
  • may results in respiratory failure
  • max weakness in 2-4 weeks
  • recovery takes weeks to months
40
Q

what are the poor prognostic indiactors of GBS/AIDP?

A
  • onset at older age
  • protracted time before recovery begins
  • need for mechanical ventilation
  • significantly reduced evoked motor potential amplitude, correlating w axonal degeneration
41
Q

what is longer length of inpatient hospitalization correlated with

A
  • presence of muscle belly tenderness
  • severe LE weakness
  • FIM scores
42
Q

when is LOS doubled

A

when these are present:

  • axonal damage
  • ventilator dependence
  • muscle belly tenderness
43
Q

what is charcot-marie-tooth disease (CMT)/ hereditary motor and sensory neuropathy (HMSN)?

A

characterized by distal limb msucle wasting and weakness, usually with skeletal deformities, distal sensory loss, abnormalities of DTRs

  • begins w peroneal nerve disorder progressing to foot and leg-ankle DF and EV affected
  • later progresses to weakness and wasting of intrinsic hand muscles then forearms
  • usually LE first then UE
44
Q

what is pes cavus

A

when peripheral neuropathy causes intrinsic foot and Lower leg weakeness resulting in imbalance of muscle action reulting in clawing of toes and high arch

-bones can fracture and collapse “rocker bottom”

45
Q

what is charcot foot

A

pes cavus and rocker bottom

46
Q

how many nontraumatic amputations are performed in diabetic patients

A

more than 50%

47
Q

what is DN caused by

A

chronic metabolic disturbances that affect neurons and schwann cells
-vascular changes affect peripheral nerves

NM conditions (25 decks)

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