Key result
Congenital Myotonic Dystrophy is a severe form of myotonic dystrophy type 1 characterized by neonatal hypotonia, respiratory failure, and feeding difficulties, with management currently limited to supportive care.
Congenital myotonic dystrophy is a severe, multisystem neuromuscular disorder requiring intensive neonatal care and long-term multidisciplinary management.
Requires intensive neonatal support and lifelong multidisciplinary care; leaves open targeted therapies beyond supportive management.
Two loci for the dystrophic myotonias are known and described as DM1 and DM2. At both loci inheritance is autosomal dominant, with DM1 associated with a CTG trinucleotide expansion on chromosome 19q13.3 and DM2 with a CCTG tetranucleotide expansion at 3q21. DM2 is not associated with a CDM phenotype, (although neonatal club foot has been once reported [1]) and so it will not be discussed further, however much of the discussion on pathogenesis related to DM1 is applicable to DM2, as will become evident below.
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Craig Campbell (2012) conducted a review in Congenital Myotonic Dystrophy. Congenital Myotonic Dystrophy is a severe form of myotonic dystrophy type 1 characterized by neonatal hypotonia, respiratory failure, and feeding difficulties, with management currently limited to supportive care.
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