Overview
Fukuyama congenital muscular dystrophy (FCMD) is a rare inherited disease that affects the muscles and the brain. It is one of the most common forms of muscular dystrophy in Japan, though it is rare in most other parts of the world. The disease is caused by changes in a gene called FKTN, which makes a protein called fukutin. Without working fukutin, muscles become weak and the brain does not develop normally. Babies with FCMD are usually floppy at birth or in early infancy. They have very weak muscles throughout their body, making it hard to move, sit, or stand. Most children with FCMD never learn to walk independently. The brain is also affected — the surface of the brain does not form the usual folds, a condition called cobblestone lissencephaly. This leads to intellectual disability, developmental delays, and seizures in most children. The eyes can also be affected, sometimes causing vision problems. There is currently no cure for FCMD. Treatment focuses on managing symptoms, improving quality of life, and preventing complications. This includes physical therapy, respiratory support, heart monitoring, seizure medications, and nutritional support. With careful medical management, some children live into their teens or twenties, though the disease does shorten life expectancy.
Key symptoms:
Very weak muscles from birth or early infancy (floppy baby)Inability to walk independentlyIntellectual disability and developmental delaysSeizures or epilepsyAbnormal brain structure (brain surface lacks normal folds)Feeding difficulties in infancyJoint stiffness or contractures (joints that cannot fully straighten)Breathing difficulties, especially as the disease progressesHeart muscle weakness (cardiomyopathy)Vision problems, including nearsightedness or eye movement issuesPoor head controlDifficulty swallowingScoliosis (curved spine) in some children
Clinical phenotype terms (31)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital muscular dystrophy, Fukuyama type.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital muscular dystrophy, Fukuyama type at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital muscular dystrophy, Fukuyama type.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital muscular dystrophy, Fukuyama type.
Community
No community posts yet. Be the first to share your experience with Congenital muscular dystrophy, Fukuyama type.
Start the conversation →Latest news about Congenital muscular dystrophy, Fukuyama type
No recent news articles for Congenital muscular dystrophy, Fukuyama type.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing should my child have, and what will the results tell us?,How often should my child's heart and lungs be checked, and what warning signs should I watch for at home?,What therapies — physical, occupational, speech — does my child need, and how often?,What seizure medications are recommended, and what should I do if my child has a prolonged seizure?,Are there any clinical trials or research studies for FCMD that my child might be eligible for?,What support services and educational resources are available for my child and our family?,What should I expect as my child gets older, and how do we plan for future care needs?
Common questions about Congenital muscular dystrophy, Fukuyama type
What is Congenital muscular dystrophy, Fukuyama type?
Fukuyama congenital muscular dystrophy (FCMD) is a rare inherited disease that affects the muscles and the brain. It is one of the most common forms of muscular dystrophy in Japan, though it is rare in most other parts of the world. The disease is caused by changes in a gene called FKTN, which makes a protein called fukutin. Without working fukutin, muscles become weak and the brain does not develop normally. Babies with FCMD are usually floppy at birth or in early infancy. They have very weak muscles throughout their body, making it hard to move, sit, or stand. Most children with FCMD never
How is Congenital muscular dystrophy, Fukuyama type inherited?
Congenital muscular dystrophy, Fukuyama type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital muscular dystrophy, Fukuyama type typically begin?
Typical onset of Congenital muscular dystrophy, Fukuyama type is neonatal. Age of onset can vary across affected individuals.