What is the prevalence of congenital myopathies?

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

The true incidence of congenital myopathies is unknown as no large population-based studies have been conducted. However, there are a varied number of stuidies that demonstrate a relative incidence of the diseases. Of hypotonic infants due to neurologic causes, approximately 60%–80% were from a central cause and 12%–34% were from a peripheral cause. [3, 4]  In the children with a peripheral cause of hypotonia, less than 50% of the cases were due to congenital myopathy. [3, 4]

The frequency of symptom onset was in the neonatal period in 76% of cases in one cohort study. [5]


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