Congenital Fiber Type Disproportion
Histopathology of congental muscle fibre dysproportion showing predominance of type 1 fibres which appear to be atrophic (yellow arrows) and few type 2 fibres. ATPase staining (pH 4) of a muscle biopsy.
Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders. It has a relatively good outcome and follows a stable course. While the exact genetics is unclear, there is an association with mutations in the genes TPM3, ACTA1 and SEPN1. It is a rare condition.
History
The condition was named by M. H. Brooke in 1973.