How is limb-girdle muscular dystrophy (LGMD) diagnosed?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Muscle biopsy and genetic testing are the most important tools used in the diagnostic evaluation of patients in whom limb-girdle muscular dystrophy (LGMD) is suspected.

Serum creatine kinase level is complementary, and may be significantly elevated in some forms of LGMD, especially the autosomal recessive LGMDs.

Magnetic resonance imaging (MRI) of muscles can help differentiate some forms of LGMD.

See Workup for more detail.


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