Congenital fiber type disproportion (CFTD, MIM #255310) is a histologically and genetically heterogeneous type of congenital myopathy defined by slow type1 fiber hypotrophy in the absence of any other major structural abnormalities in the skeletal muscle tissue [1]. Clinically patients manifest with a variable range of hypotonia and generalized muscle weakness at birth, developing with a high-arched palate, proximal weakness and thoracic and spinal deformities and contractures. Respiratory involvement is described in 30% of the patients.

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