The Clinical Outcome Study for dysferlinopathy
An international multicenter study
Citation Manager Formats
Make Comment
See Comments

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
- 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.
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Dr. Sevil Yaşar and Dr. Behnam Sabayan
► Watch
Topics Discussed
Alert Me
Recommended articles
-
Articles
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studiesC. Paradas, J. Llauger, J. Diaz-Manera et al.Neurology, June 23, 2010 -
Articles
Symptomatic dysferlin gene mutation carriers: Characterization of two casesI. Illa, N. De Luna, R. Domínguez-Perles et al.Neurology, February 07, 2007 -
Articles
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathyM. Aoki, J. Liu, I. Richard et al.Neurology, July 24, 2001 -
Articles
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D.S. Pitceathly, Sinéad M. Murphy, Ellen Cottenie et al.Neurology, August 29, 2012