What is the role of pulmonary function testing (PFT) and sleep studies in the workup of congenital myopathies?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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With the common respiratory weakness, evaluation for pulmonary function in appropriately aged patients is often warranted. The relationship to skeletal muscle weakness and respiratory weakness varies by the underlying disorder. As such, one should use symptology and genotype rather than muscle strength to direct when to obtain testing. Additionally, nocturnal hypoventilation often preceeds daytime symptoms but can be missed in a clinical encounter without directed questioning of patients.

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