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Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.

Diagnostic approach to the congenital muscular dystrophies.

Author information

1
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States. Electronic address: carsten.bonnemann@nih.gov.
2
Driscoll Children's Hospital, Corpus Christi, TX, United States.
3
Hôpital Raymond Poincaré, Garches, and UFR des sciences de la santé Simone Veil (UVSQ), France.
4
Hôpital Universitaire des Enfants Reine Fabiola, Brussels and Ghent University Hospital, Ghent, Belgium.
5
Bambino Gesu' Children's Research Hospital, Rome, Italy.
6
UMR787 INSERM/UPMC and Reference Center for Neuromuscular Disorders, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
7
Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom.
8
INSERM U827, Laboratoire de Génétique Moleculaire, Montpellier, France.
9
University of Iowa, Iowa City, IA, United States.
10
Stanford University School of Medicine, Stanford, CA, United States.
11
Kaiser SCPMB, Los Angeles, CA, United States.
12
Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

Abstract

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the diagnostic features, differential diagnostic considerations and available diagnostic tools for the various CMD subtypes and provide a systematic guide to the use of these resources for achieving an accurate molecular diagnosis. An International Committee on the Standard of Care for Congenital Muscular Dystrophies composed of experts on various aspects relevant to the CMDs performed a review of the available literature as well as of the unpublished expertise represented by the members of the committee and their contacts. This process was refined by two rounds of online surveys and followed by a three-day meeting at which the conclusions were presented and further refined. The combined consensus summarized in this document allows the physician to recognize the presence of a CMD in a child with weakness based on history, clinical examination, muscle biopsy results, and imaging. It will be helpful in suspecting a specific CMD subtype in order to prioritize testing to arrive at a final genetic diagnosis.

KEYWORDS:

Alpha-dystroglycan; Collagen VI; Congenital muscular dystrophy; Diagnostic guideline; Lamin A/C; Laminin alpha2; RYR1; SEPN1

PMID:
24581957
PMCID:
PMC5258110
DOI:
10.1016/j.nmd.2013.12.011
[Indexed for MEDLINE]
Free PMC Article

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