What is the prevalence of congenital muscular dystrophies (CMDs)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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An Italian study identified mutations in 220 of 336 patients (65.5%). The most common forms of CMD were those with α-dystroglycan glycosylation deficiency (40.18%) followed by those with laminin α2 deficiency (24.11%) and collagen VI deficiency (20.24%). The forms of CMD dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively). [4]

In Japan, Fukuyama congenital muscular dystrophy is fairly common. It is approximately 50% as common as Duchenne muscular dystrophy. The estimated prevalence is approximately 7–12 cases per 100,000 children. [1] In Italy, the prevalence of all congenital muscular dystrophies has been estimated to be 4.7 cases per 100,000 children, while in Sweden the incidence is estimated at 6.3 cases per 100,000 births. Only about 25–50% of patients with CMD have an identifiable genetic mutation. [2]

The prevalence and incidence of the congenital muscular dystrophies varies in different regions of the world. For example, in a study of 116 patients in the United Kingdom, the most common congenital muscular dystrophies were collagen VI–related disorders (19%), with α-dystroglycanopathy congenital muscular dystrophy (12%) and merosin-deficient congenital muscular dystrophy (MDC1A) (10%) being next in frequency. [5] The Australian study by Peat and colleagues in 2008 [6] showed dystroglycanopathy as the most common congenital muscular dystrophy (25%) on that continent, followed by collagen VI–related disorders (12%). Fukuyama congenital muscular dystrophy is the most prevalent form (49.2%) in Japan, followed by collagen VI deficiency at 7.2%. [7]

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