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Congenital fiber type disproportion


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Other Names:
Congenital fiber-type disproportion myopathy; Myopathy, congenital with fiber-type disproportion; CFTDM; Congenital fiber-type disproportion myopathy; Myopathy, congenital with fiber-type disproportion; CFTDM; Fiber-type disproportion myopathy, congenital See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Cap myopathy; Myopathy congenital

Summary Summary


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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]
Last updated: 9/5/2012

Symptoms Symptoms


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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 59 |
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 0003828
Showing of 59 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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 Treatment


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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. 
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cftd#cftd.Management
Last updated: 4/30/2010

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 other congenital myopathies (X-linked myotubular myopathy, multiminicore disease, nemaline myopathy) and neuromuscular disorders (congenital muscular dystrophy, Emery-Dreifuss muscular dystrophy).
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Congenital fiber type disproportion. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Congenital fiber type disproportion. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Congenital fiber type disproportion:
    Congenital Muscle Disease International Registry
    The RYR-1 Foundation Registry
     

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
  • RYR-1 Foundation
    P.O. Box 13312
    Pittsburgh, PA 15243
    Telephone: 412-529-1482
    E-mail: lindsay@ryr1.org
    Website: https://www.ryr1.org/

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

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.

Where to Start

  • The National Institute of Neurological Disorders and Stroke (NINDS) provides more information on congenital myopathies in general that you may find helpful. NINDS collects and disseminates research information related to neurological disorders.
  • Genetics Home Reference (GHR) contains information on Congenital fiber type disproportion. This website is maintained by the National Library of Medicine.

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.

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. Submit a new question

  • What is the incidence of congenital fiber type disproportion? Is it considered a rare disease? See answer

  • My child has congenital fiber type disproportion due to a mutation in SEPN1. Are there any new drugs or vitamins (even under trial) to treat this condition.  See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Congenital fiber-type disproportion. Genetics Home Reference (GHR). 2010; http://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; http://www.ncbi.nlm.nih.gov/books/NBK1259/. Accessed 9/5/2012.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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