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Neuromuscular Disorders (iii) - Coggle Diagram
Neuromuscular Disorders (iii)
Myotonic disorders
delayed relaxation after sustained muscle contraction
can be identified clinically + on EMG
Dystrophia Myotonica
relatively common
AD
nucleotide triple repeat expansion
anticipation through generations can occur, esp when maternally transmitted
newborns present with hypotonia, feeding problems, resp problems
examine mother - slow release of handshake
older children present with myopathic facies (sunken cheeks, bilat ptosis, inability to elevate the corners of mouth), learning difficulties, myotonia
adults develop cataracts, males develop baldness + testicular atrophy
death usually due to CM
The floppy infant
slip through fingers
head lag
exam can help determine site of lesion
cortical: central hypotonia (preserved limb tone)
NM: peripheral hypotonia
dysmorphic features
frog like posture, poor antigravity movements, absent reflexes - LMN lesions
causes
central
cortical
HIE
malformations
genetic
Downs
Prader-Willi
metabolic
hypothyroisism
hypocalc
peripheral (NM)
SMA
myopathy
myotonia
congenital MG