Muscular Dystrophy Flashcards
what are muscular dystrophies in general
inherited progressive loss of strength in muscle groups
discuss duchenne muscular dystrophy
most common form
recessive sex linked - Xp21
usually male but some isolated cases d/t mutation
onset around 4 yo
pathophysiology of duchenne
dystrophin deficiency causes plasma membrane to collapse
- mawawala anchoring elements in cytoskeleton
- pasok ng pasok cells sa loob = burts
- mapapalitan ng fibrotic tissue yung muscle fiber
clinical pres of duchenne
psuedohypertrophy of calf
toe walk to compensate for weak knee ext
lordotic to compensate for weak hip ext
frequent falls, diff stair neg
pain on muscles
macroglossia
sever respi/cardiac prob by 20 yo
what is gower’s test
when standing mag ccrawl to get up
discuss cardio and respi abnormalities in duchenne
cardiac - low dystrophic protein in myocardium and purkinje
respi - weak muscles, altered mechanics and impairment of central control
dx for duchenne
fam history
hx of malignat hyperthermia
elevated CK
complications in duchenne
PF, knee flexor, hip flexor, ITB, elbow flexor and wrist flexor contractures over 13
socliosis if w/c by 12-15
respi infection
bed sores
medical tx for duchenne
gulocorticoid corticosteroids - 6mo - 2 yrs
creatine
myoblast transplant
ortho tx of duchenne
scoliosis - spinal fixation
what is becker’s muscular dystrophy
milder and onset is later and slowly - 5-15 yo
Xp21
longer life - 30s-50s
clinical manifestation of becker’s
gradual proximal weakness: LE then UE at 10-20 p onset
ext are weak
common: hip and knee ext and neck flexors
too much dystrophin
what is severe childhood autosomal recessive muscular dystrophy
SCARMD
equal sex, 3-12 yo
proximal muscles and slower
abnormal dystrophin assoc glycoprotein
ssx of SCARMD
calf hypertrophy
gower’s
loss of amb by 10-20
fewer spinal, cardio and pulmo compli
what is congenital muscular dystrophy
hypotonia, muscle weakness, contractures and dystrophic patterns in first few hrs of life
static but may show slow progression
c or s CNS involvement
congenital muscular dystrophy c CNS involvement
fakuyama:
- retardation
- structural malformation
- dystrophic myopathy
walker warburg
- retardations
- ocular abnormality
- cleft/lip palate
muscle eye-brain
- weakness
- retardation
- ocular abnormality
congenital muscular dystrophy s CNS involvement
weakness
hypotonia
contracture
normal to md elevated CK
normal mental
PT tx for congenital muscular dystrophy
bracing and casting, stretching
bracing for amb
power w/c if enough cognitive
what is fascioscapulohumeral muscular dystrophy
autosomal dom c equal gender - 4p35
teens or early adult onset
slow progression c rapid spurts
3rd most common
clinical pres of FSHD
facial: obrcularis oculi, orbicularis oris, zygomaticus
UE: traps, rhomboids, serratus ant, lats
from UE proximal
coat’s syndrome
what is coat’s syndrome
early onset FSHMD c sensory neural hearing deficit
myopathy c rapid progression
w/c by 2nd and 3rd decade
what is emery dreifuss
rare form and slow progression
early childhood, adolescence or early adult
x-linke recessive male - Xq28
affects scapulohumeral and peroneal distrbituion
clinical manifestation of emery dreifuss
weak scapulohumeral and peroneal distrib (1st)
hallmark: elbow flexion contracture
arrythmia and cadiomyopathy
nocturnal hypoventialtion
tight cervical and lumbar ext
what is limb girdle muscular dystrophy
childhood or adult
reccesive or dom c equal MF
first affects hip and shoulder girdle
and slow progression
