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shmvii
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MDs - which type of fiber?
type II - fast, phasic
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generally in MDs, which muscles are involved first?
- axial & proximal
- extensors before flexors
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what kind of inheritance for Duchenne MD?
- x-linked recessive (50% are affected)
- males get it, females are carriers
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DMD presentation and posture
- enlarged calves
- shoulder and arm weakness noted soon after leg weakness
- hip flexion contracture, abd legs, increased lordosis, knee flexion, equinovarus
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DMD in WC by when?
10-12 y/o
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meryon sign
gower's
- meryon - try to lift kid by armpits...
- gower's - kid pushing self up from floor to stand...
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in DMC, how does the body compensate for decreased quad strength?
PF
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DMD, when does amb end?
when hip extension lag plus knee ext lag = 90 degrees
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3 biggies to stretch in DMD, and at what age to start each?
- 2-3 y/o: hip flexors / iliopsoas
- 3-4: heel cords / gastroc w knee straight, soleus w knee bent
- 4: TFL (prone, hip ext w add and knee ext)
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3 associated med problems w DMD
- cardiomyopathy and respiratory
- obesity
- contractures
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post op management for MD pts (after something like a muscle lengthening to fight contractures)
- same day: stand in long leg cast
- next day: ambulate (bc w 3% reduction in strength per day, can't afford a delay)
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Becker's MD
how is it inherited
- benign DMD
- x-linked recessive
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Becker's MD - presentation
proximal weakness w ambulation until mid-teen yrs
works like DMD, but slower
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Facioscapulohumeral MD (FSH) inheritiance?
autosomal dominant w strong penetrance (highly hereditary)
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FSH onset
0-adulthood, but 75% are symptomatic by 20 y/o
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presentation of FSH - weak where? progresses where?
- face: particularly orbicularis oculi and oris, transverse smile, can't wrinkle forehead
- upper arms and shoulders: scap elevated, arms IR, pec M atrophy,
- ant tib: atropy --> foot drop
- ( and also, abdominal weakness --> increased lordosis)
- starts w ant tib and shoulder weakness, then face, then pelvic girldle, then more distal
- (wrist ext often involved early)
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scapuloperoneal / early presentation of FSH
- shoulder weakness and foot drop are earliest signs
- facial comes later
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special problem of FSH?
sever back pain 2/2 lordosis (caused by weak abs) -- may need bracing, but can't do it while ambulatory
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who would need a clavicular strap
FSH pts 2/2 serratus weakness
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things a pt w FSH MD may need
- cavicular strap for scap
- AFO for ankle (weak tib ant)
- eye drops (dry eye 2/2 weak orbic oculi)
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limb girdle MD inheritance
all types of inhertiance, but most commonly autosomal recessive
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limb girdl MD onset
2nd to 3rd decade
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presentation of limb girdle MD
- weak hip muscles --> gait & climbing difficulties
- shoulder weakness - esp pecs and biceps, but Popeye arms for some reason
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which MD pts can get steroids
DMD, not the others, bc they're slower progressing and you can't have someone on steroids that long
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limb girdle MD progression
- slow, over decades, eventually reaching distal muscles
- WC ~20 yrs post diagnosis
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special problems of limb girdle MD
- anti-gravity muscles esp affected
- ADL affected 2/2 difficulty reaching & rising from chair
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special things for limb girdle MD pts
- raised toilet seat
- elevating chair
- elevate furniture
- spring assist "cushion"
- stair glide (chair for stairs)
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myotonic dystrophy inheritance
autosomal dominant, but severity can vary in one fam
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onset of myotonic dystrophy
teen yrs, give or take
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first sign of myotonic dystrophy, and what is it?
myotonia: inability to relax a muscle after a contraction or stimulation -- muscle stays contracted for a few seconds
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presentation of myotonic dystrophy
increases w cold or fatigue
myotonia may present early, go undiagnosed
- then weakness in hands, feet, facial muscles, neck flexors
- ptosis, bland expression, temporal atrophy
slowly involves all muscle groups ...
bulbar, difficulty chewing, swallowing, speech
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special features of myotonic dystrophy
- associated w endocrine abnormalities: pancriatic, adrenal, gonadal
- cataracts
- frontal balding
- cardiac conduction defects
- arrhytmias
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