peripheral conditions Flashcards
what are the 4 bases attached to DNA backbone
- adenine A
- Thymine T
- Guanine G
- Cytosine C
define heritability
-proportion of variation in the phenotype attributable to variation in genetic factors
what do genetic factors have a role in?
- response to exericse; strength, motor control, stroke recovery
- severity and progression of disease
define genetics
study of genes, heredity, genetic variation in living organism
define genomics
study of genomes or complete set of genetic material of an organism
what is a genome
- 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
define genotype
2 alleles an individual carries at a specific location in a gene
define phenotype
observable traits of the individual
define epigenetics
study of inheritable changes in the organisms caused by modification of gene expression
what are some epigenetic factors that influence health
- aging
- obesity
- physical activity and exercise
- smoking, drugs, alcohol
- geographic variations
- socioeconomic status
- health disparities and inequities
- social support
- gender
- race
- ethnicity
- LGBTQQ
what is myasthenia gravis
- chornic peripheral autoimmune NM disease of NM jundction
- skeletal muscle wekeaness that worsens after periods of activity and improves after rest
what are signs of myasthenia gravis
- diplopia
- facial weakness
- ptosis
- dyphasgia, dysarthria
- shortness of breath
- weakness in neck, UE, LE
- fatigue
what is limb girdle muscluar dystrophy (LGMD)
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
what is LGMD type 1
autosomal dominant inheritance
what is LGMD type 2
autosomal recessive inheritance
what are the early stages of LGMD
- changes in walking (waddling, walking on balls of feet)
- hands on knees to transition from squat to stand
what are the late stages of LGMD
may require a wheelchair
what do both stages of LGMD display
- scap winging
- increasd lumbar lordosis
- pseudohypertrophy of calf
what are the resistance training considerations in LGMD
-both higher and lower intensity may improve strength in arms over 6 months, unclear if function improves
what are the aerobic trainng considerations in LGMD
-may improve aerobic capacity and walkign
what is fascioscapularhumeral muscular dystrophy (FSHD)?
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
what is FSHD management?
- 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
what kind of conduction does very thick myelin have?
very fast
what kind of conduction does thick myelin have?
fast
what kind of conduction does thin myelin have?
slow
what kind of conduction does no myelin have?
very slow
what makes myelin in the PNS?
schawnn cells
what makes myelin in the CNS?
oligodendroycytes
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
what is axonotmesis
axon damaged due to crush, stretch, lacerating injury or disease process
-connective tissue remains intact
what is neurotmesis
most severe axonal loss with complete severance of axon and its connective tissue coverings
what is bells palsy CN VII
- differentiate from stroke
- urgent medical care needed
- devleops overnight
- 71% full recovery
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
what are some infectious diseases
polio
post-poliio syndrome
what are some immune-mediated, inflamm conditions
guilliarn barre
what are metabolic conditions
diabetic neuropathy
what are hereditary conditions
charcot-marie tooth disease
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
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
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
what is longer length of inpatient hospitalization correlated with
- presence of muscle belly tenderness
- severe LE weakness
- FIM scores
when is LOS doubled
when these are present:
- axonal damage
- ventilator dependence
- muscle belly tenderness
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
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”
what is charcot foot
pes cavus and rocker bottom
how many nontraumatic amputations are performed in diabetic patients
more than 50%
what is DN caused by
chronic metabolic disturbances that affect neurons and schwann cells
-vascular changes affect peripheral nerves
