Centronuclear myopathy (CNM) is a rare disease of inherited neuromuscular disorders, including X-linked CNM (XLCNM), autosomal dominant and recessive CNM, RYR1-related CNM. Review of the epidemiologic reports yielded limited incidence, prevalence and survival rate data. High variability between geographic regions and per disease etiology and severity resulted in limited insights in the current patient population. Currently, an incidence of 1 in 50000 births has been reported for severe, male XLCNM, and pediatric point prevalence of CNM has been estimated to be 1 in 100000, both known to underestimate the current pool.

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