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Fukuyama type muscular dystrophy


Información en español Title


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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


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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


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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: 1/1/2021

Cause Cause


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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


Listen
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


Listen
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


Listen
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


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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
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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


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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.

Organizations Organizations


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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


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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


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Saito K. Fukuyama Congenital Muscular Dystrophy. GeneReviews. Updated July, 2019; https://www.ncbi.nlm.nih.gov/books/NBK1206.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
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