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Neurology Genetics
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August 2016; 2 (4) ArticleOpen Access

The Clinical Outcome Study for dysferlinopathy

An international multicenter study

Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
First published August 4, 2016, DOI: https://doi.org/10.1212/NXG.0000000000000089
Elizabeth Harris
From The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital, Aix-Marseille Université, France; Department of Neurology (O.S.-K., M.C.W.), Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany; and Institut de Myologie (T.S.), AP-HP, G.H. Pitié-Salpêtrière, Boulevard de l'Hôpital, Paris, France.
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Catherine L. Bladen
PhD
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Anna Mayhew
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Meredith James
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Karen Bettinson
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Ursula Moore
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Fiona E. Smith
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Laura Rufibach
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Avital Cnaan
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Diana X. Bharucha-Goebel
MD
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Andrew M. Blamire
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Elena Bravver
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Pierre G. Carlier
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John W. Day
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Jordi Díaz-Manera
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Michelle Eagle
PT, PhD
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Ulrike Grieben
MD
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Matthew Harms
MD
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Kristi J. Jones
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Hanns Lochmüller
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Jerry R. Mendell
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Madoka Mori-Yoshimura
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Carmen Paradas
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Elena Pegoraro
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Alan Pestronk
MD
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Emmanuelle Salort-Campana
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Olivia Schreiber-Katz
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Claudio Semplicini
MD
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Simone Spuler
MD
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Tanya Stojkovic
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Volker Straub
MD
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Shin'ich Takeda
MD, PhD
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Carolina Tesi Rocha
MD
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M.C. Walter
MD, MA
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Kate Bushby
MD
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Full PDF
Citation
The Clinical Outcome Study for dysferlinopathy
An international multicenter study
Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
Neurol Genet Aug 2016, 2 (4) e89; DOI: 10.1212/NXG.0000000000000089

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Abstract

Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.

Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.

Results: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies.

Conclusions: These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.

GLOSSARY

a-NSAA=
adapted North Star Ambulatory Assessment;
CK=
creatine kinase;
FVC=
forced vital capacity;
IB=
immunoblot;
IH=
immunohistochemistry;
LGMD=
limb-girdle muscular dystrophy;
LGMD2B=
limb-girdle muscular dystrophy type 2B;
ME=
monocyte expression;
MM=
Miyoshi myopathy;
MMT=
Manual Muscle Testing;
MRC=
Medical Research Council;
NSAA=
North Star Ambulatory Assessment;
OR=
odds ratio;
RFF=
rise from floor;
TUG=
Timed Up and Go

Footnotes

  • Funding information and disclosures are provided at the end of the article. Go to Neurology.org/ng for full disclosure forms. The Article Processing Charge was paid by the University of Newcastle.

  • Coinvestigators are listed at Neurology.org/ng.

  • Supplemental data at Neurology.org/ng

  • See editorial

  • Received March 18, 2016.
  • Accepted in final form June 16, 2016.
  • © 2016 American Academy of Neurology

This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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