Skip to content
Norton & Elaine Sarnoff Center for Jewish Genetics Logo
  • Home
  • About Us
    • Board Members
    • Staff
  • Genetic Disorders
    • Types of Genetic Disorders
    • Jewish Genetic Disorder FAQs
    • Rabbinical Insights
  • Hereditary Cancer
    • BRCA Mutations
    • Lynch Syndrome
    • Assess Your Risk
    • Cancer FAQs
    • Cancer Resources
  • Resources
    • Family Health History
    • Teach Jewish Genetics
    • For Medical Professionals
    • Personal Stories
    • Blog
    • Events
  • Donate
  • Get Screened

Muscular Dystrophy-Dystroglycanopathy (FKTN-Related)

Muscular dystrophy-dystroglycanopathy (FKTN-related) is a disorder that causes proteins to develop abnormally.

Symptoms include abnormalities in the structures of the brain and eye, profound intellectual disability, and progressive muscle weakness, especially in the limbs but sometimes in the heart and lungs. Affected individuals may also experience seizures. Symptoms are typically present at birth.  

This condition is caused by pathogenic (disease-causing) variants in the FKTN gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 80 chance to be a carrier. Carriers typically do not experience any symptoms. 

Other names for this condition include Walker-Warburg syndrome, limb girdle muscular dystrophy type 2M, Fukuyama congenital muscular dystrophy/muscle-eye-brain disease, and FKTN-related dystrophies. 

Resources:  

National Organization for Rare Disorders (NORD)

National Library of Medicine

Revised July 2022

Share this
Tweet this
Email this

The Norton & Elaine Sarnoff Center for Jewish Genetics is a supporting foundation of the Jewish United Fund, and is supported in part by the Michael Reese Health Trust.

30 S Wells
Chicago, IL 60606
312-357-4718
jewishgenetics@juf.org

Twitter/X
About
  • About Us
  • Genetic Disorders
  • Hereditary Cancer
  • Donate
Resources
  • Medical Professionals
  • Teach Jewish Genetics
  • Events

©2023 Norton & Elaine Sarnoff Center for Jewish Genetics

Page load link
Go to Top