![]() Alleles with more than 55 CCTG repeats can be considered pathogenic. Myotonic dystrophy type 2 (DM2) is also an autosomal dominant disorder that is caused by a heterozygous pathogenic expansion of a CCTG repeat with a complex repeat motif in CNBP. In neonates, hypotonia, facial muscle weakness, generalized weakness, positional malformation, and respiratory insufficiency can be indicators for suspecting DM1. DM1 can be suspected if the patient has distal and facial muscle weakness, myotonia, and posterior subcapsular cataracts. Normal alleles carry 5 to 34 CTG repeats while full-penetrance pathogenic alleles carry more than 50 CTG repeats. Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder caused by CTG repeat expansion in 3’ UTR of the *DMPK* gene. There are two types of myotonic dystrophy. Affected individuals often have prolonged muscle contraction, also they may suffer from slurred speech or a locked jaw. It is characterized by progressive wasting and weakening of muscles. Myotonic dystrophy is a disorder that affects the skeletal and smooth muscles of multiple systems. The clinician suspected congenital myotonic dystrophy. Both parents were unaffected and there was no family history. The proband was an infant male present with cryptorchidism and muscle weakness. Both parents of the child were unaffected, and there was no family history. There was a male infant present with cryptorchidism and muscle weakness.
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