Progress in the diagnosis and treatment of congenital fiber-type disproportion
10.3760/cma.j.issn.1673-4408.2017.02.013
- VernacularTitle:先天性肌型比例失调的诊疗进展
- Author:
Ji ZHOU
- Keywords:
Congenital fiber-type disproportion;
Congenital myopathy;
Genotype;
Phenotype
- From:
International Journal of Pediatrics
2017;44(2):124-127
- CountryChina
- Language:Chinese
-
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.
