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2026, Number 3

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Rev Mex Pediatr 2026; 93 (3)

Congenital myotonic dystrophy type 1; the importance of family study

Guapi-Nauñay VH, Yépez-Hidalgo EI, Díaz-Maldonado CM, Díaz-Torres MD

Language: Spanish
References: 27
Page: 116-123
PDF size: 1795.22 Kb.


ABSTRACT

Introduction: congenital myotonic dystrophy (CDM) is the severe form of myotonic dystrophy type 1 (MD1)—usually maternally transmitted—characterized by hypotonia and respiratory insufficiency, with high mortality. Objective: to describe the clinical findings and genealogy of a newborn with CDM. Case presentation: the patient was born at 31 weeks of gestational age. During pregnancy, polyhydramnios and decreased fetal movements were noted. At birth, the infant presented with generalized hypotonia and apnea, requiring advanced resuscitation and permanent mechanical ventilation. The patient exhibited areflexia, severe feeding difficulties, recurrent episodes of bronchospasm, and superinfections, ultimately dying at 73 days of life. Molecular analysis of the DMPK gene demonstrated the presence of an allele detectable by PCR, a finding consistent with excessive expansion of the CTG triplet. Family history revealed 10 relatives affected by clinical manifestations of MD1 at various ages across four generations, following an autosomal dominant pattern. Conclusion: CDM is a disease with an autosomal dominant inheritance pattern and the phenomenon of genetic anticipation. This condition should be considered in the differential diagnosis of neonates with generalized hypotonia.


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