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 | ||
| Elevated serum creatine phosphokinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
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 | ||
| Abnormality of the eyelashes |
Abnormal eyelashes
Eyelash abnormality
[ more ]
|
0000499 |
| Abnormality of the retinal vasculature |
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 | |
|
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 | |
| 0000006 | ||
| Beevor's sign | 0030664 | |
| Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
| Childhood onset |
Symptoms begin in childhood
|
0011463 |
| External ophthalmoplegia | 0000544 | |
| Exudative retinal detachment | 0012231 | |
| Facial palsy |
Bell's palsy
|
0010628 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Restrictive deficit on pulmonary function testing | 0002111 | |
| 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 | 0003547 | |
| Slow progression | 0003677 | |
| Tongue atrophy |
Wasting of the tongue
|
0012473 |
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.
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 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. 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.
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.
New Directions in Biology and Disease of Skeletal Muscle
Monday, June 25, 2018 -
Thursday, June 28, 2018
Location:
New Orleans,
LA
Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.
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
