Congenital fiber type disproportion

Congenital fiber type disproportion (CFTD) is a rare muscle disease, specifically Type I muscle fibers. It is characterized by scoliosis, loss of muscle tone, short stature, dislocated hips, and foot deformities, all of which are evident at birth. Although CFTD is present at birth, symptoms tend to improve with age. Some cases of CFTD are thought to occur sporadically. Familial transmission also has been evidenced, and in some cases, gene mutations have been identified in genes that encode for muscle proteins. Over all, research presents a rather heterogeneous etiology for CFTD and incidence rates are unknown.


 


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