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Small fiber neuropathy in late-onset Pompe disease: a case report and prospective screening

Authors :
Sneha Jain
Stephanie Austin
Priya S. Kishnani
Lisa D. Hobson-Webb
Laura E. Case
Karla Greene
Source :
Molecular Genetics and Metabolism. 111:S22
Publication Year :
2014
Publisher :
Elsevier BV, 2014.

Abstract

compared with detailed physical testing of the same muscle groups. MR showed improved sensitivity for detection of abnormality in multiple muscle groups including those producing ankle eversion and dorsiflexion, knee flexion and extension, tongue movement, neck extension, elbow flexion and extension, andmost of the isolated movements of the shoulder. Color-codedmuscle map images were then generated to serve as clinical tools for display of complimentary MR and physical examination data and to facilitate more rapid interpretation of the dataset. We believe this integrated, quantitative approach to muscle group assessment will prove both robust and clinically useful in tracking progression and response to treatment in Pompe disease and other neuromuscular disorders.

Details

ISSN :
10967192
Volume :
111
Database :
OpenAIRE
Journal :
Molecular Genetics and Metabolism
Accession number :
edsair.doi...........306912448b7b9f97222d08b3a7043352
Full Text :
https://doi.org/10.1016/j.ymgme.2013.12.031