Fukuyama congenital muscular dystrophy (FCMD) is a type of muscular dystrophy that is present at birth and affects the Japanese population almost exclusively. The condition’s primary symptoms are progressive weakness in skeletal muscles and impaired brain development.

There currently is no cure for FCMD, but medical management can slow the disease’s progression and improve patients’ quality of life.

Physiotherapy

Physiotherapy, including stretching exercises, can help promote mobility and prevent contractures (limited movement of joints).

Adaptive devices

Adaptive devices such as long leg braces can improve standing posture. Wheelchairs can increase mobility.

Surgery

Spinal fusion surgery can preserve breathing function when scoliosis (abnormal curvature of the spine) is present. It also can help improve sitting balance.

Respiratory care

Respiratory function should be assessed regularly in individuals with advanced FCMD and who are older than 10.

Non-invasive ventilation can relieve respiratory distress, especially at night.

FCMD patients frequently develop respiratory tract infections, which must be treated immediately. These infections are the most common cause of hospital admissions and death in FCMD patients.

Diet

Caloric intake and nutritional status should be assessed regularly. A feeding tube (gastrostomy) may be necessary to ensure adequate caloric intake.

Heart function

Heart function should be monitored routinely by chest X-ray and echocardiography (ultrasound of the heart) in individuals older than 10.

Acid reflux

FCMD patients may develop gastroesophageal reflux disease (GERD), which can be treated surgically or with medication.

Seizures

Patients who experience seizures should be clinically evaluated every three months. An electroencephalogram (a procedure that measures the electrical activity in the brain) should be performed every six months. Anticonvulsant medications can help control seizures.

 

Last updated: Aug. 21, 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 health provider 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.

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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.