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?

24
Q

what kind of conduction does thick myelin have?

25
what kind of conduction does thin myelin have?
slow
26
what kind of conduction does no myelin have?
very slow
27
what makes myelin in the PNS?
schawnn cells
28
what makes myelin in the CNS?
oligodendroycytes
29
what is neurapraxia
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
what is axonotmesis
axon damaged due to crush, stretch, lacerating injury or disease process -connective tissue remains intact
31
what is neurotmesis
most severe axonal loss with complete severance of axon and its connective tissue coverings
32
what is bells palsy CN VII
- differentiate from stroke - urgent medical care needed - devleops overnight - 71% full recovery
33
what is trigeminal neuralgia CN V
- brief, intense shock like bursts of pain within distribution of the nerve - pain control needed - could be related to herpes, inflamm reactions, tumors
34
what are some infectious diseases
polio | post-poliio syndrome
35
what are some immune-mediated, inflamm conditions
guilliarn barre
36
what are metabolic conditions
diabetic neuropathy
37
what are hereditary conditions
charcot-marie tooth disease
38
what is GBS/acute inflammatory demyelinating polyneuropathy (AIDP)
- 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
what are signs/smpytoms of GBS/AIDP?
- 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
what are the poor prognostic indiactors of GBS/AIDP?
- onset at older age - protracted time before recovery begins - need for mechanical ventilation - significantly reduced evoked motor potential amplitude, correlating w axonal degeneration
41
what is longer length of inpatient hospitalization correlated with
- presence of muscle belly tenderness - severe LE weakness - FIM scores
42
when is LOS doubled
when these are present: - axonal damage - ventilator dependence - muscle belly tenderness
43
what is charcot-marie-tooth disease (CMT)/ hereditary motor and sensory neuropathy (HMSN)?
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
what is pes cavus
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
what is charcot foot
pes cavus and rocker bottom
46
how many nontraumatic amputations are performed in diabetic patients
more than 50%
47
what is DN caused by
chronic metabolic disturbances that affect neurons and schwann cells -vascular changes affect peripheral nerves