Steinert's congenital myotonic dystrophy: report of a patient

Abstract

Steinert'scongenital myotonic dystrophy is a hereditary disease with a pattern of dominant autosomal inheritance that has broad forms of presentation and can occur from early life to adulthood. It presents with diverse symptoms including: respiratory distress, muscle weakness, hearing and visual difficulties, mental retardation and others. Its diagnosis is clinical and is confirmed with electromyography; the treatment is related to the forms of presentation of the disease. The case of a 19-year-old white longilinear pregnant woman is reported. She was married, with a husband of old age and a family history of Down syndrome. While conducting the cytogenetic and clinical examination of the patient it was striking her biotype and the difficulty releasing the fist when shaking hands. She undergoes electromyography studies reaching the diagnosis of Steinert'scongenital myotonic dystrophy.

Keywords

• distrofia miotónica/diagnóstico
• enfermedades genéticas congénitas