Congenital Fiber Type Disproportion
Also known as:
CFTD
Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
Last modified: 24th August 2022
Theoretical association with:
Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy.
One study reported between 10-20% of congenital fiber type disproportion is caused by variants in RYR1. There are no reports of MH in patients with CFTD, but precautions advisable because of possible RYR1 variant before genetic testing performed
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
Human Mutation 2010