Universität zu Köln

Balke, Maryam, Lehmann, Helmar C., Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Wunderlich, Gilbert (2017). 30-year-old Patient with suspected Marfan Syndrome and Progressive Gait disturbance. Dtsch. Med. Wochenschr., 142 (13). S. 982 - 986. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-4413

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Balke, Maryam UNSPECIFIED UNSPECIFIED UNSPECIFIED Lehmann, Helmar C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fink, Gereon R. UNSPECIFIED orcid.org/0000-0002-8230-1856 UNSPECIFIED Wunderlich, Gilbert UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-226563
DOI:	10.1055/s-0043-106279
Journal or Publication Title:	Dtsch. Med. Wochenschr.
Volume:	142
Number:	13
Page Range:	S. 982 - 986
Date:	2017
Publisher:	GEORG THIEME VERLAG KG
Place of Publication:	STUTTGART
ISSN:	1439-4413
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Medicine, General & Internal Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22656