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Disease Profile

Congenital fiber type disproportion

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.

Unknown

US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

G71.2

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.

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)

Congenital fiber-type disproportion myopathy; Myopathy, congenital with fiber-type disproportion; CFTDM;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Congenital fiber type disproportion is a type of congenital myopathy. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Early signs and symptoms of congenital fiber type disproportion include floppiness, limb and facial weakness, and breathing problems.[1][2] It is a genetic disease caused by mutations in the ACTA1, SEPN1, RYR1 or TPM3 genes.[1] Depending on the gene and mutation involved, congenital fiber type disproportion can be passed through families in an autosomal recessive, autosomal dominant, or X-linked manner.[1][3]

Symptoms

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
Generalized muscle weakness
0003324
Muscular hypotonia
Low or weak muscle tone
0001252
Reduced tendon reflexes
0001315
30%-79% of people have these symptoms
Ankle flexion contracture
0006466
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
EMG: myopathic abnormalities
0003458
Failure to thrive
Faltering weight
Weight faltering

[ more ]

 0001508
Fatigable weakness of bulbar muscles
0030192
High palate
Elevated palate
Increased palatal height

[ more ]

 0000218
Hip contracture
0003273
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

 0001388
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

 0000276
Mildly elevated creatine kinase
0008180
Motor delay
0001270
Pectus excavatum
Funnel chest
0000767
Poor suck
Poor sucking
0002033
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

 0002205
Reduced vital capacity
0002792
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Tented upper lip vermilion
0010804
Type 1 muscle fiber atrophy
0011807
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

 0002515
Weak cry
0001612
5%-29% of people have these symptoms
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Congenital hip dislocation
Dislocated hip since birth
0001374
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures

[ more ]

 0002987
Flexion contracture of finger
0012785
Hyperlordosis
Prominent swayback
0003307
Knee flexion contracture
0006380
Kyphoscoliosis
0002751
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

 0000347
Ophthalmoplegia
Eye muscle paralysis
0000602
Polyhydramnios
High levels of amniotic fluid
0001561
Ptosis
Drooping upper eyelid
0000508
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

 0002089
Scapular winging
Winged shoulder blade
0003691
Short stature
Decreased body height
Small stature

[ more ]

 0004322
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

 0001762
1%-4% of people have these symptoms
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

 0000028
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

 0001249
Limb joint contracture
Limb contractures
0003121
Scoliosis
0002650
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Bulbar palsy
0001283
Centrally nucleated skeletal muscle fibers
0003687
Congenital onset
Symptoms present at birth
0003577
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

 0002015
Facial palsy
Bell's palsy
0010628
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

 0011968
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

 0000275
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Reduced forced vital capacity
0032341
Respiratory insufficiency
Respiratory impairment
0002093
Type 1 fibers relatively smaller than type 2 fibers
0003755
Variable expressivity

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Currently we are not aware of new therpies, drugs, supplements, or vitamins to cure or effectively treat congenital fiber-type disproportion. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy.[2] You can find additional information on the management of congenital fiber type disproportion at the following link to the GeneReviews Web site. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. 
    https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cftd#cftd.Management

    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

        Parent Matching Organizations

        • Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view the Making Contact page for congenital fiber type disproportion.

          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.

          Where to Start

            In-Depth Information

            • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
            • 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 Congenital fiber type disproportion. Click on the link to view a sample search on this topic.

              References

              1. Congenital fiber-type disproportion. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion. Accessed 9/5/2012.
              2. NINDS Congenital Myopathy Information Page. National Institute of Neurological Disorders and Stroke (NINDS). May 25, 2017; https://www.ninds.nih.gov/Disorders/All-Disorders/Congenital-Myopathy-Information-Page.
              3. DeChene ET, Kang PB, Beggs AH. Congenital Fiber-Type Disproportion. GeneReviews. 2008; https://www.ncbi.nlm.nih.gov/books/NBK1259/. Accessed 9/5/2012.

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