Key result
A newborn patient presented with clinical features and a muscle biopsy compatible with congenital fiber-type disproportion myopathy.
Case Report (n=1)
No
Describes a case of congenital fiber-type disproportion myopathy diagnosed by clinical data and muscle biopsy.
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Biopsy supports neonatal diagnosis of congenital fiber-type disproportion myopathy; leaves open validation in larger cohorts.
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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Haro-Hernández et al. (2015) conducted a case report in Congenital fiber-type disproportion myopathy (n=1). A newborn patient presented with clinical features and a muscle biopsy compatible with congenital fiber-type disproportion myopathy.
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