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 (FKRP-related)

Muscular dystrophy-dystroglycanopathy is an inherited disorder that causes breakdown in muscles used in movement as well as muscles in the brain and heart.

Symptoms include muscle weakness, brain abnormalities, and intellectual disability. In rare cases, an abnormal FKRP gene is associated with muscle eye brain disease.

This condition is caused by pathogenic (disease-causing) variants in the FKRP 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. Carriers typically do not experience any symptoms.

Other names for this condition include FKRP-related conditions and limb-girdle muscular dystrophy R9.

Resources: 

Muscular Dystrophy Association

Limb Girdle Muscular Dystrophy Awareness Foundation

Revised August 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

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