478299
Beschreibung
Mindmap von v.djabatey, aktualisiert more than 1 year ago
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Erstellt von v.djabatey
vor fast 11 Jahre
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Myotonic disorders
- myotonia= delayed
relaxation after sustained
mm contraction
- IDed clinically and on EMG
- IDed clinically and on EMG
- dystrophia myotonica
- dominantly inherited
- caused by nucleotide triplet
expansion
- so there can be
anticipation through
the generations
- esp when
maternally
transmitted
- esp when
maternally
transmitted
- so there can be
anticipation through
the generations
- presentation
- newborns
- hypotonia
- resp &
feeding
difficulties
- due to mm weakness
- due to mm weakness
- good to
examine mum
for myotonia
- manifestation
- slow release
of
handshake
- difficulty
releasing tightly
clasped fist
- slow release
of
handshake
- manifestation
- hypotonia
- older kids
- myopathic
facies
- LD
- myotonia
- myopathic
facies
- newborns
- diagnosis
- imp to be sensitive
while giving diag in
the neonate
- imp to be sensitive
while giving diag in
the neonate
- adults
- cataracts
- males
- baldness
- testicular atrophy
- baldness
- cataracts
- death usually
due to
cardiomyopathy
- dominantly inherited
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