Fukuyama Congenital Muscular Dystrophy

Gene : FKTN

What is Fukuyama congenital muscular dystrophy?

Fukuyama congenital muscular dystrophy (FCMD), also known as FKTN-related Walker-Warburg Syndrome, is an extremely severe inherited disorder that affects muscle, brain, and eye development. Individuals with this disorder will typically have severe eye and brain abnormalities that are present at birth, as well as seizures and intellectual disability that develop later in infancy. It causes progressive muscle wasting and muscle weakness very early in life. Children affected with this disorder will not typically survive past age 3. Currently, there is no cure for this disorder but medical surveillance and care may help to improve some symptoms and overall condition of life. FCMD is caused by pathogenic variants in the FKTN gene.

How is Fukuyama congenital muscular dystrophy inherited?

FCMD is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

What does it mean to be a carrier?

There are generally no signs or symptoms associated with being a carrier for FCMD. However, the risk to have a child affected with FCMD is increased. Testing of reproductive partners is recommended for carriers of FCMD.

How common is Fukuyama congenital muscular dystrophy?

Walker-Warburg Syndrome affects 1 in 60,500 newborns worldwide. FKTN-related WWS is more common in the Ashkenazi Jewish population.

Family References and Resources
Clinician References
What is Analyzed?
  • Full gene sequencing
Affected Systems






Carrier Rates
Detection Rate
Carrier Frequency
Ashkenazi Jewish > 99% 1 in 150
General Population 92% 1 in 500

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