What is included in the AAN/AANEM guidelines for the limb-girdle or distal muscular dystrophy?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

In 2014, guidelines for the diagnosis and management of patients with limb-girdle or distal muscular dystrophies were issued by the AAN and the AANEM. The guidelines were endorsed by the American Academy of Physical Medicine and Rehabilitation, the Child Neurology Society, the Jain Foundation, and the MDA. [78]

The guideline provides algorithms for diagnosis, with the clinical picture, ethnicity, family history, and cardiac and respiratory symptoms all considered in deciding whether genetic testing for MD is appropriate and which of the many individual tests to select. The guidelines call for referral of patients suspected of having MD to a specialist center for evaluation and genetic testing. The key recommendations are listed below.


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