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  3. Facioscapulohumeral muscular dystrophy
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Facioscapulohumeral muscular dystrophy


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Other Names:
FSHD; Muscular dystrophy, facioscapulohumeral; Facioscapulohumeral muscular dystrophy 1A; FSHD; Muscular dystrophy, facioscapulohumeral; Facioscapulohumeral muscular dystrophy 1A; FSHMD1A; Muscular dystrophy, facioscapulohumeral, type 1a; FSHD1A; Landouzy-Dejerine muscular dystrophy See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Muscular dystrophy

Summary Summary


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Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern.[1]
Last updated: 3/15/2013

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 29 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
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
EMG abnormality 0003457
Hyperlordosis
Prominent swayback
0003307
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
0000298
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
30%-79% of people have these symptoms
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ]
0000499
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ]
0100540
Sensorineural hearing impairment 0000407
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Percent of people who have these symptoms is not available through HPO
Abdominal wall muscle weakness 0009023
Autosomal dominant inheritance 0000006
Beevor's sign 0030664
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Childhood onset
Symptoms begin in childhood
0011463
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Exudative retinal detachment 0012231
Facial palsy
Bell's palsy
0010628
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Retinal telangiectasia 0007763
Scapular winging
Winged shoulder blade
0003691
Scapulohumeral muscular dystrophy 0008970
Seizure 0001250
Shoulder girdle muscle atrophy
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy
[ more ]
0003724
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
Slow progression
Signs and symptoms worsen slowly with time
0003677
Tongue atrophy
Wasting of the tongue
0012473
Showing of 29 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
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 MedlinePlus Genetics.

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 diagnosis mainly includes limb-girdle muscular dystrophy but also neuromuscular diseases presenting with scapular winging as glycogen storage disease due to acid maltase deficiency, late-onset, endocrine myopathy, inclusion body myopathy with Paget disease of bone and frontotemporal dementia (see these terms), proximal neuropathies or neuronopathies.
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 Facioscapulohumeral muscular dystrophy. 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 Facioscapulohumeral muscular dystrophy. 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 Facioscapulohumeral muscular dystrophy:
    National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy
     

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

  • Friends of FSH Research
    217 19th Place
    Kirkland, WA 98033
    Telephone: 425-827-8954
    E-mail: connect@fshfriends.org
    Website: http://www.fshfriends.org/
  • FSH Society, Inc.
    450 Bedford Street
    Lexington, MA 02420
    Telephone: 617-669-1706
    E-mail: info@fshsociety.org
    Website: http://www.fshsociety.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.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

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

  • Genetics Home Reference (GHR) contains information on Facioscapulohumeral muscular dystrophy. 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 Facioscapulohumeral muscular dystrophy. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

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

  • Is stem cell therapy being successfully used to treat people with facioscapulohumeral muscular dystrophy (FSHD)? Should people with FSHD exercise? If so, how often and how intensely? Does drinking alcoholic beverages quicken the progression of FSHD? Is there a pharmaceutical drug to slow down the progression? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Facioscapulohumeral muscular dystrophy. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy. Accessed 3/15/2013.
Do you know of a review article? We want to hear from you.
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rare disease research!
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