Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Facioscapulohumeral muscular dystrophy FSHD is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

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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. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.

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. 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. 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. 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. 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.

Inclusion on this list is not an endorsement by GARD. 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.

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. 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. National Institutes of Health.

COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Facioscapulohumeral muscular dystrophy. You can help advance rare disease research! Title Other Names:. This disease is grouped under:. Muscular dystrophy. Summary Summary. Symptoms Symptoms. Showing of 29 View All. 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. Prominent swayback. Expressionless face. Lack of facial expression. Mask-like facial appearance. Muscle degeneration. Muscle wasting. Abnormal eyelashes. Abnormality of the eyelashes. Eyelash abnormality. Abnormality of retina blood vessels.

Fullness of eyelids. Puffy eyelids. Puffy lids. Swelling of eyelids. Poor swallowing. Swallowing difficulties. Swallowing difficulty. Increased size of calf muscles. Symptoms begin in childhood. Paralysis or weakness of muscles within or surrounding outer part of eye.

Bell's palsy. Mental deficiency. Mental retardation. Mental retardation, nonspecific. Winged shoulder blade. Shoulder girdle muscle wasting.

Shoulder-girdle muscle atrophy. Weak shoulder muscles. Signs and symptoms worsen slowly with time. Wasting of the tongue. Do you have more information about symptoms of this disease?

We want to hear from you. Do you have updated information on this disease? Find a Specialist Find a Specialist. 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. Related Diseases Related Diseases. 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.


Facioscapulohumeral muscular dystrophy



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