Rare Neurology News

Disease Profile

Fukuyama type muscular dystrophy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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ICD-10

G71.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

FCMD; Muscular dystrophy, congenital, with central nervous system involvement; Muscular dystrophy, congenital, Fukuyama type;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

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]

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]

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.

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

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]

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

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

    Organizations Providing General Support

      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.

        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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