Progress in the diagnosis and treatment of congenital fiber-type disproportion / 国际儿科学杂志

ABSTRACT

Congenital fiber-type disproportion (CFTD) is a rare form of congenital myopathy,characterized by non-progressive generalized muscle weakness from early childhood.Diagnosis depends on crucial histological abnormality that type 1 muscle fibers are consistently smaller than type 2 fibers in the absence of other specific histological abnormalities.Whether CFTD should be regarded as a distinct diagnostic entity has always been a controversial issue.Many pathogenic genes have been identified in recent years.This article reviews clinical manifestation,pathology,genetic diagnosis and treatment progress of CFTD.