Nervenheilkunde 2019; 38(05): 304
DOI: 10.1055/s-0039-1685095
Poster
Muskeldystrophien und Myotone Dystrophien
Georg Thieme Verlag KG Stuttgart · New York

Clinical Outcome Study in Dysferlinopathy: Medical comorbidities and polytherapy in a large population of dysferlinopathy patients

K Storch
1   Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Abteilung für Neuropädiatrie, Dresden, Deutschland
2   The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle, Vereinigtes Königreich
,
S Spuler
3   Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Charité Muscle Research Unit, Berlin, Deutschland
,
JW Day
4   Stanford University School of Medicine, Department of Neurology and Neurological Sciences, Stanford, Vereinigte Staaten
,
KJ Jones
5   Children's Hospital at Westmead, Institute for Neuroscience and Muscle Research, Sydney, Australien
,
DX Bharucha-Goebel
6   Children's National Health System, Department of Neurology, Washington, DC, Vereinigte Staaten
,
E Salort Campana
7   Aix-Marseille Université, La Timone Hospital, Neuromuscular and ALS center, Marseille, Frankreich
,
MC Walter
8   Ludwig-Maximilians-University of Munich, Friedrich-Baur-Institute, Dept. of Neurology, München, Deutschland
,
S Krause
8   Ludwig-Maximilians-University of Munich, Friedrich-Baur-Institute, Dept. of Neurology, München, Deutschland
,
A Pestronk
9   Washington University School of Medicine, Department of Neurology, St. Louis, Missouri, Vereinigte Staaten
,
C Paradas
10   Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Neuromuscular Unit, Department of Neurology, Sevilla, Spanien
,
T Stojkovic
11   Boulevard de l'Hôpital, Institut de Myologie, Paris, Frankreich
,
M Mori-Yoshimura
12   National Center Hospital, National Center of Neurology and Psychiatry, Department of Neurology, Tokio, Japan
,
E Bravver
13   Carolinas Healthcare System Neurosciences Institute, Charlotte, NC, Vereinigte Staaten
,
JD Manera
14   Hospital de la Santa Creu i Sant Pau, Neuromuscular Disorders Unit, Neurology Department, Barcelona, Spanien
,
E Pegoraro
15   University of Padova, Department of Neuroscience, Padova, Italien
,
JR Mendell
16   Nationwide Children's Hospital, Columbus, OH, Vereinigte Staaten
,
K Bushby
2   The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle, Vereinigtes Königreich
,
V Straub
2   The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle, Vereinigtes Königreich
› Author Affiliations
Further Information

Publication History

Publication Date:
06 May 2019 (online)

Also available at
 
 

    Methods:

    203 patients (aged 12 – 88) have been recruited across 15 sites in 8 countries. All patients were molecularly diagnosed and followed over 3 years. Medical history and comorbidities were collected by specific questionnaires. Medications were categorised using the British National Formulary.

    Results:

    The most common comorbidities at baseline were: cardiovascular (33 patients-16%-; 27 of which are hypertension), endocrine (21 patients-10%-; 10 of which are hypothyroidism) and respiratory (16 patients-7%-; 15 if which are asthma). 5 patients were diagnosed from autoimmune diseases. During follow-up, hypertension was diagnosed in 6 patients.

    141 patients (69%) were taking drugs or supplements at the beginning of COS (range: 0 – 10 medications). 65 patients (32%) were on daily vitamins or nutritional supplements, 27 (13%) on anti-hypertensive, 25 on NSAIDs (12%), 16 (8%) on opioids and 16 (8%) on antidepressants. During follow-up, anti-hypertensive, antidepressants, opioids and anti-epileptic prescribed more commonly than other medications.

    Of note, before participation in COS and due to misdiagnosis with inflammatory myopathies, 56 patients (28%) had previously been treated with steroids, 16 (8%) with ivIg and 12 (6%) with immune suppressants.

    Conclusions:

    We believe this information should be taken into account when designing interventional clinical trials.


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