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Last updated: 02/13/2023
Years published: 1992, 1994, 1996, 2005, 2007, 2012, 2015, 2018, 2023
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.
Treatment
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:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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
614-722-4625
[email protected]
TEXTBOOKS
Rowland LP, ed. Merritt’s Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:746.
Adams RD, Victor M, Ropper AA, eds. Principles of Neurology. 6th ed. McGraw-Hill Companies. New York, NY; 1997:1427.
Menkes JH, Pine Jr JW, et al., eds. Textbook of Child Neurology. 5th ed. Williams & Wilkins. Baltimore, MD; 1995:832, 843.
REVIEW ARTICLES
Grewal PK, Hewitt JE. Glycosylation defects: a new mechanism for muscular dystrophy? Hum Mol Genet. 2003;12 Spec No 2:R259-64.
Toda T, Kobayashi K, Takeda S, et al. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenit Anom. (Kyoto). 2003;97-104.
Martin-Rendon E, Blake DJ. Protein glycosylation in disease: new insights into the congenital muscular dystrophies. Trends Pharmacol Sci. 2003;24:178-83.
JOURNAL ARTICLES
Yamamoto T, Kato Y, Karita M, et al. Expression of genes related to muscular dystrophy with lissencephaly. Pediatr Neurol. 2004;31:183-90.
Kato R, Kawamura J, Sugawara H, et al. A rapid diagnostic method or a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet A. 2004;127:54-57.
Takeda S, Kondo M, Sasaki J, et al. Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development. Hum Mol Genet. 2003;12:1449-59.
Saito Y, Kobayashi M, Itoh M, et al. Aberrant neuronal migration in the brainstem of Fukuyama-type congenital muscular dystrophy. J Neuropathol Exp Neurol. 2003;62:497-508.
Taniguchi K, Kobayashi K, Saito K, et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003;12:527-34.
INTERNET
Noor ER. Congenital Muscular Dystrophy. Medscape. Jul 03, 2019. https://emedicine.medscape.com/article/1180214-overview . Accessed Dec 8, 2022.
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Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.
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Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
View report
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