What is It?

Fukuyama congenital muscular dystrophy is an inherited condition that affects the brain, eyes, and muscles. This condition causes muscle weakness and atrophy beginning very early in life. This condition is rarely found outside of Japan.

What Are the Symptoms of Fukuyama Congenital Muscular Dystrophy?

Symptoms may include:

  • Seizures
  • Weak cry
  • Floppiness
  • Muscle weakness
  • Hypotonia
  • Delay in development
  • Cardiac issues
  • Swallowing difficulty
  • Neurological problems
  • Cobblestone lissencephaly
  • Delayed myelination in the brain

How Do You Get It?

This disorder is caused by mutations in the fukutin or FKTN gene. The role of the fukutin protein is still unknown. This disorder is inherited as an autosomal recessive trait.

How Is It Diagnosed?

This disorder can be diagnosed through a physical examination and medical history, including blood tests, electromyographic studies and muscle biopsy.

Is There a Treatment?

Treatment is symptomatic and can include physical therapy and medications. Genetic counseling would be beneficial for the patient and their family.

Helpful Resources

Genetics Home Reference




Leukodystrophy Care Network