Which clinical history findings are characteristic of congenital myopathies?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Answer

History will vary based upon the underlying genotype. Additionally, while there is some predictive value of the history, with emerging mutations being described, there are atypical cases and a broader consideration is sometimes needed to differentiate.

Most congenital myopathies present in childhood with a significant majority presenting in infants or neonates. The hallmark feature, given skeletal muscle involvement, is weakness. However, this weakness also presents with respiratory and/or feeding difficulties. Other features can differentiate the subtypes of congenital myopathy with either the pattern of muscle weakness or extra-muscle involvement. In late-onset disease, upon detailed questioning, often a history of infantile hypotonia and/or delayed motor milestones can be revealed.

In cases of autosomal dominant or x-linked disease, a family history can be indicative of cause.

Below, the subtypes described in the introduction are further differentiated. These include examples and are not meant to be all inclusive of an ever-expanding list.


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