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@ARTICLE{Balke:834882,
author = {Balke, Maryam and Lehmann, Helmar and Fink, Gereon Rudolf
and Wunderlich, Gilbert},
title = {30-jähriger {P}atient mit {V}. a. {M}arfan-{S}yndrom und
zunehmend beeinträchtigter {G}ehfähigkeit},
journal = {Deutsche medizinische Wochenschrift},
volume = {142},
number = {13},
issn = {1439-4413},
address = {Stuttgart},
publisher = {Thieme},
reportid = {FZJ-2017-04770},
pages = {982 - 985},
year = {2017},
abstract = {History A 30-year-old man presented with a history of
progressive muscle weakness, difficulty in concentrating,
and a slender habitus since early childhood. Marfan syndrome
was suspected since the age of 14.Examinations 13 years
later he was examined by Marfan experts and by genetic
testing and Marfan syndrome could not be confirmed. Further
neurological examination revealed the suspected diagnosis of
myotonic dystrophy type 1, which was confirmed by genetic
testing.Treatment and course Similar to Marfan syndrome,
myotonic dystrophy is a multisystemic disorder with the risk
of cardiac arrythmias. It is necessary to provide an
interdisciplinary care by neurologists, internists,
ophthalmologists, speech therapists, and
physiotherapists.Conclusion It is not enough to take the
habitus as the principle sign to diagnose Marfan syndrome.
Furthermore, it is essential to consider symptoms that are
not typical for Marfan syndrome, such as cognitive
deficiencies or progressive paresis.},
cin = {INM-3},
ddc = {610},
cid = {I:(DE-Juel1)INM-3-20090406},
pnm = {572 - (Dys-)function and Plasticity (POF3-572)},
pid = {G:(DE-HGF)POF3-572},
typ = {PUB:(DE-HGF)16},
UT = {WOS:000406063800015},
doi = {10.1055/s-0043-106279},
url = {https://juser.fz-juelich.de/record/834882},
}