Fukuyama congenital muscular dystrophy (FCMD), a rare type of MD seen almost exclusively in the Japanese population, usually is marked by progressive weakness in skeletal muscles and problems in brain development.

Known as FCMD, this rare muscular dystrophy is an inherited condition caused by a mutation in the FKTN gene. That gene carries the instruction to make a protein called fukutin.

The exact function of fukutin protein is unclear, but there is some evidence suggesting that it may play a role in the modification of another protein called alpha-dystroglycan. The alpha-dystroglycan protein stabilizes the skeletal muscles and supports the movement of nerve cells in the brain during early development.

In FCMD, the defective fukutin protein may result in improperly-working alpha-dystroglycan, which may lead to the disease’s muscular and developmental symptoms.

FCMD and the skeletal muscles

Skeletal muscles are those muscles that support movement. The initial symptoms of skeletal muscle weakness due to FCMD appear in early infancy — infants appear floppy. Other skeletal muscles related symptoms include:

  • Poor feeding
  • Weak cry
  • Droopy eyelids due to weak facial muscles
  • Joint deformities or contractures that affect movement
  • Progressive muscle weakness leading to poor development of motor skills, including sitting, standing, and walking

FCMD and the brain

Brain development also is affected in patients with FCMD. The characteristic manifestation is the development of cobblestone lissencephaly or a bumpy, irregular brain surface that resembles cobblestones. This structural deformity of the brain impedes speech development, causes moderate-to-severe intellectual disability, and leads to poor social skills. Seizures also are common in people with FCMD.

Other symptoms

As the condition progresses, other muscles in the body also may be affected. This can cause several other symptoms:

  • Weakness of the eye muscles can lead to impaired vision and other eye problems.
  • The heart muscle may be affected, and patients may develop cardiomyopathy — a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body — and heart failure.
  • Weakness in the facial muscles may cause progressive difficulty in swallowing.
  • Patients may often develop lung infections, like pneumonia, as the muscles used for breathing progressively weaken.

 

Last updates: August 20, 2019

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Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
Total Posts: 31
Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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