Congenital fiber-type disproportion myopathy: a case study

Haro Hernández, B. J. de y Macouzet Sánchez, Carlos y Rodríguez Balderrama, Isaías y O Cavazos, Manuel Enrique de la (2015) Congenital fiber-type disproportion myopathy: a case study. Medicina universitaria, 17 (66). pp. 42-45. ISSN 1665-5796

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Resumen

Congenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is inherited as an autosomal recessive, dominant and X-linked. It is diagnosed by clinical data confirmation, generalized hypotonia and a muscle biopsy in which muscle fibers type I are smaller in caliber, 12% smaller than those of type II and type I fibers are more common than type II. Treatment is multidisciplinary. The following describes the case of a patient who was born in the ‘‘Dr. José Eleuterio González’’ University Hospital in Monterrey, N.L, who presented clinical and muscle biopsy compatible with this myopathy.

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