Fukuyama type muscular dystrophy

Información en español Title

Other Names:

FCMD; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; FCMD; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; Muscular dystrophy, congenital, Fukuyama type; Cerebromuscular dystrophy, Fukuyama type See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Nervous System Diseases See More

This disease is grouped under:

Congenital disorder of glycosylation with developmental anomaly; Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; Congenital muscular dystrophy; Congenital disorder of glycosylation with developmental anomaly; Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; Congenital muscular dystrophy; Congenital muscular dystrophy due to dystroglycanopathy See More

Summary Summary

Fukuyama type muscular dystrophy (FCMD) affects the muscles and brain, causing muscle damage that gets worse over time. There are mild, typical, and severe forms of FCMD. Symptoms begin at birth and include a poor suck, weak cry, and floppiness. Later symptoms include severe speech delay, intellectual disability, seizures, and visual impairment. Over time, muscle damage can lead to heart, breathing, and swallowing problems. Many people with Fukuyama type muscular dystrophy die in early adulthood due to respiratory or heart failure. Fukuyama type muscular dystrophy is caused by genetic variants in the FKTN gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.^[1]^[2]^[3]

Last updated: 10/13/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with Fukuyama type muscular dystrophy. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:^[1]^[2]

Low muscle tone (hypotonia)
Poor feeding
Weak cry
Speech delay
Intellectual disability
Seizures
Vision problems
Swallowing difficulty (dysphagia)
Heart muscle damage (cardiomyopathy)
Difficulty breathing

There are mild, typical, and severe forms of Fukuyama type muscular dystrophy (FCMD). The first symptoms occur in infancy and include low muscle tone, floppiness, trouble feeding, and a weak cry. Children with FCMD have delays in developing motor skills and speech. Imaging studies of the brain of people with FCMD typically show a 'cobblestone' appearance. Muscle damage gets worse over time and many people with FCMD die in early adulthood from respiratory problems or heart failure.^[2]

Last updated: 10/13/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 63 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
EMG abnormality		0003457
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Global developmental delay		0001263
Hypoglycosylation of alpha-dystroglycan		0030046
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Mask-like facies	Expressionless face Lack of facial expression Mask-like facial appearance [ more ]	0000298
Muscular dystrophy		0003560
Muscular hypotonia	Low or weak muscle tone	0001252
Myopathy	Muscle tissue disease	0003198
Plagiocephaly	Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ]	0001357
Type II lissencephaly		0007260
30%-79% of people have these symptoms
Brachycephaly	Short and broad skull	0000248
Camptodactyly of finger	Permanent flexion of the finger	0100490
EEG abnormality		0002353
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Pectus excavatum	Funnel chest	0000767
Seizure		0001250
Ventriculomegaly		0002119
Weak cry		0001612
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the corpus callosum		0007370
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Dilated cardiomyopathy	Stretched and thinned heart muscle	0001644
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Exaggerated startle response		0002267
Glaucoma		0000501
Holoprosencephaly		0001360
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Optic atrophy		0000648
Retinal dysplasia		0007973
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Percent of people who have these symptoms is not available through HPO
Agenesis of corpus callosum		0001274
Agyria		0031882
Areflexia	Absent tendon reflexes	0001284
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Autosomal recessive inheritance		0000007
Calf muscle hypertrophy	Increased size of calf muscles	0008981
Cerebellar cyst		0002350
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Congenital muscular dystrophy		0003741
Elevated serum creatine kinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
Encephalocele		0002084
Flexion contracture	Flexed joint that cannot be straightened	0001371
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hypoplasia of the brainstem	Small brainstem Underdeveloped brainstem [ more ]	0002365
Hypoplasia of the pyramidal tract		0007348
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Microphthalmia	Abnormally small eyeball	0000568
Muscle weakness	Muscular weakness	0001324
Myocardial fibrosis		0001685
Pachygyria	Fewer and broader ridges in brain	0001302
Polymicrogyria	More grooves in brain	0002126
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Respiratory insufficiency	Respiratory impairment	0002093
Retinal detachment	Detached retina	0000541
Scoliosis		0002650
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Spinal rigidity	Reduced spine movement	0003306
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Transposition of the great arteries		0001669

Showing of 63 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

Cause Cause

Fukuyama type muscular dystrophy is caused by the FKTN gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[1]

Last updated: 10/13/2020

Inheritance Inheritance

Fukuyama type muscular dystrophy is inherited in an autosomal recessive pattern.^[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Last updated: 10/13/2020

Diagnosis Diagnosis

Fukuyama type muscular dystrophy (FCMD) is diagnosed based on the symptoms, clinical exam, and imaging studies (MRI) of the brain. The diagnosis may be confirmed by the results of genetic testing. Diagnostic guidelines for FCMD have been published.^[4]^[5]

Last updated: 10/13/2020

Treatment Treatment

Treatment for Fukuyama type muscular dystrophy is focused on managing the symptoms. Treatment options may include medication for seizures, physical therapy, and surgery to place a gastrostomy tube to help with feeding.^[1]^[2]Guidelines for management of people with FCMD have been published.^[5]

Specialists involved in the care of someone with Fukuyama type muscular dystrophy may include:^[1]

Orthopedist
Neurologist
Pulmonologist
Physical therapist
Speech pathologist
Cardiologist
Ophthalmologist

Last updated: 10/13/2020

Statistics Statistics

It has been estimated that about three in 100,000 people are born with Fukuyama type muscular dystrophy.^[2]^[6] Although this condition affects people worldwide, most people with this condition are found in Japan.

Last updated: 10/13/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Duchenne and Becker muscular dystrophies, and other muscular dystrophies associating a type II lissencephaly (known as dystroglycanopathies; see these terms). Brain, cerebellar and ocular abnormalities observed in most FCMD patients are similar to and would be diagnosed out of Japan as MEB syndrome (see this term). Therefore, there is an increasing tendency to use the global term MEB/FCMD syndrome. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnoses include Duchenne and Becker muscular dystrophies, and other muscular dystrophies associating a type II lissencephaly (known as dystroglycanopathies; see these terms). Brain, cerebellar and ocular abnormalities observed in most FCMD patients are similar to and would be diagnosed out of Japan as MEB syndrome (see this term). Therefore, there is an increasing tendency to use the global term MEB/FCMD syndrome.

Visit the Orphanet disease page for more information.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Cure CMD - Congenital Muscular Dystrophy
19401 S. Vermont Ave., Suite J100
Torrance, CA 90502
Telephone: 323-250-2399 or 424-265-0874
E-mail: info@curecmd.org
Website: https://www.curecmd.org/
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Fukuyama type muscular dystrophy. Click on the link to view a sample search on this topic.

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References References

Saito K. Fukuyama Congenital Muscular Dystrophy. GeneReviews. Updated July, 2019; https://www.ncbi.nlm.nih.gov/books/NBK1206.
Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, et al. National registry of patients with Fukuyama congenital muscular dystrophy in Japan. Neuromuscul Disord. Oct 2018; 28(10):885-893. https://pubmed.ncbi.nlm.nih.gov/30220444.
Falsaperla R, Praticò AD, Ruggieri M, Parano E, Rizzo R, Corsello G, et al. Congenital muscular dystrophy: from muscle to brain. Ital J Pediatr. Aug 31, 2016; 42(1):78. https://pubmed.ncbi.nlm.nih.gov/27576556.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A et al, Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. Apr 2014; 24(4):289-311. https://pubmed.ncbi.nlm.nih.gov/24581957.
Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, et al; Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. Mar 31, 2015; 84(13):1369-78. https://pubmed.ncbi.nlm.nih.gov/25825463.
Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, et al. Respiratory management of patients with Fukuyama congenital muscular dystrophy. Brain Dev. Mar 2016; 38(3):324-30. https://pubmed.ncbi.nlm.nih.gov/26363734.
Kuwayama R, Suzuki Y, Nishikawa M, Kimizu T, Nakajima K, Ikeda T, et al. Epilepsy in patients wih advanced Fukuyama congenital muscular dystrophy. Brain Dev. Jul 25, 2020; S0387-7604(20):30182-0. https://pubmed.ncbi.nlm.nih.gov/32723526.