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NORD gratefully acknowledges Chang-Yong Tsao, MD, FAAN, FAAP, Professor of Clinical Pediatrics and Neurology, College of Medicine and Public Health, Ohio State University, for assistance in the preparation of this report.
Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited in an autosomal recessive pattern. Symptoms of this disorder are apparent at birth and progress slowly. In addition to general muscle weakness and deformities of the joints (contractures), FCMD is often accompanied by seizures, intellectual disability and speech problems. This disorder is predominantly found in Japan.
Infants with FCMD are “floppy” at birth and usually have problems sucking and swallowing. They have a weak cry and there is a loss of muscle tone as well as weakness of the muscles. The joints in the knees and elbows may be in a fixed position (contractures) and reflexes of the tendons are poor.
Intellectual disability is characteristic of this form of muscular dystrophy. Also, some affected infants and children have seizures. A sunken chest and a severe form of grand mal seizures called status epilepticus has been found in a few individuals with FCMD.
FCMD occurs because of a change (mutation or variant) in the gene that gives instructions for the production of (codes for) a protein known as fukutin. The normal role of this protein isn’t yet well understood.
Fukuyama congenital muscular dystrophy is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.
Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
In some individuals, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a changed (mutated) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
FCMD is almost nonexistent in the United States, but in Japan is second only to Duchenne muscular dystrophy in frequency. The incidence in Japan is reported as about 0.7-1.2 cases per 100,000 children.
The diagnosis depends on a thorough physical examination and medical history. In addition, the physician will look for information to assist in the diagnosis from several tests such as blood tests to detect abnormally high levels of a particular enzyme (creatine kinase) released form the cells of damaged muscles, genetic testing for fukutin gene variants, electromyographic studies to determine the area of muscle that is damaged and muscle biopsy to distinguish muscular dystrophy from other neuromuscular disorders.
Patients with Fukuyama congenital muscular dystrophy may benefit from physical therapy to help prevent joints from becoming fixed.
For patients who have seizures, anti-seizure medications such as phenytoin, valproic acid, phenobarbitol, clonazepam, ethusuximide, primidone, corticotropin and corticosteroid drugs may help prevent and control seizures.
Genetic counseling is recommended for patients and their families.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Contact for additional information about Fukuyama type congenital muscular dystrophy:
Chang-Yong Tsao, MD, FAAN, FAAP
Professor of Clinical Pediatrics and Neurology
Nationwide Children’s Hospital
College of Medicine
Ohio State University
Columbus, Ohio 43210
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