Muscular Dystrophy and Myotonic Disorders Flashcards
discuss muscular dystrophies
LMN
hypotonic + condition
discuss DMD
x linked - abnormal xp21
absence of dystrophin
M 3-5 yo - early onset
until 18-25 yo
clinical charac of DMD
progressive weakness
pseudohypertrophy of calves
intellectual impairment
proliferation of CT in muscle
function of dystrophin
holds cell together - if wala sasabog
skeletons of cells - arranges
discuss chance of getting DMD
healhy father and carrier mother
50% normal
25% - affected son
25% - carrier daughter
1st sign of weakness in DMD
poor head control
no dev delays at start pero by 1 nagkakaron
by 3 - gowers
DMD at 3-5 yo
normal to some degree of weakness - more diff activity more apparent
(+) gower’s by 3 - from prone to seating
weak LE then UE: gmax muna affects STS, stair neg
early contracture of LE then UE, distal to proximal - non contractile CT in muscles
- pflexion contracture, knees, hip then elbow
DMD at 10-12 yo
w/c bound na motorized
if standard baka weak na UE tas add trauma pa and prone to scolio
faster scolio leads to RLD
prone to apnea - give BIPAP or CPAP
DMD at 18-25 yo
life expectancy
make their lives worthwhile
contraindications to DMD
MRE - causes trauma
CKC or OKC ka na lang - BW ex
goals of PT in DMD
maintain strength, control and balance
inc flexibility
w/c training lalo if P balance
improve respi hygiene - deep DBE
best type of ex for DMD
pool therapy allows training s trauma
also improves aerobic capcity
discuss BMD
milder form of DMD
lack of dystrophin also
10-15 yo until 40s
no MRE
compare age of onset for DMD and BMD
DMD: 3-5 yo
BMD: 10-15 yo
compare age of surivival for DMD and BMD
DMD: 18-25
BMD: mid adult around 40s
compare contractures for DMD and BMD
DMD: early
BMD: late
compare scolio for DMD and BMD
DMD: faster
BMD: slower
compare MR for DMD and BMD
DMD: +
BMD: -
discuss emery dreifus muscular dystrophy
x linked recessive - xp28
emerin deficiency
onset at 5-15 yo
slowest prog most survive to late adult
what is emerin for
in myogen cells found in scapulohumeral muscles, peroneals and biceps
sparing of deltoids and FA muscles
clinical charac of emery dreifuss
elbow and knee contractures
SCH and peroneal muscle wasting - flat foot
normal intellect
severe cardiomyopathy
pseudohypertrophy of muscles
facial weakness
myotonia
discuss fascioscapulohumeral muscular dystrophy
M=F about 10 yo
affects muscles of face and shoulder
unable to
- whistle and wrinkle forehead
- close eye tightly
- raise arms
discuss limb girdle muscular dystrophy
less common and less severe
family hx of atypical MD
onset > 7 yo
clnical manifestations of limb girdle muscular dystrophy
calf pseudohypertrophy
equinovarus foot
high rate of scolio
less frequent cardiac involvement
