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||
|80%-99% of people have these symptoms|
|Fatty replacement of skeletal muscle||0012548|
|Foot dorsiflexor weakness||0009027|
|Mildly elevated creatine phosphokinase||0008180|
|Muscle fiber inclusion bodies||0100299|
|Tibialis muscle weakness||0008963|
|30%-79% of people have these symptoms|
|Absent Achilles reflex||
Absent ankle reflexes
|EMG: myotonic discharges||0100284|
|EMG: positive sharp waves||0030007|
|Hip flexor weakness||0012515|
|Increased variability in muscle fiber diameter||0003557|
|Limited shoulder movement||0006467|
|Limited wrist extension||0006251|
|Shoulder girdle muscle weakness||0003547|
|5%-29% of people have these symptoms|
|Abnormality of the right hemidiaphragm||0040047|
|Lower limb amyotrophy||0007210|
Winged shoulder blade
|Shoulder girdle muscle atrophy||
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy[ more ]
|1%-4% of people have these symptoms|
|Weakness of long finger extensor muscles||0009077|
|Percent of people who have these symptoms is not available through HPO|
|Deposits immunoreactive to beta-amyloid
Distal muscle wasting
|Distal muscle weakness||
Weakness of outermost muscles
|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 creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
|EMG: myopathic abnormalities||0003458|
Impaired gait[ more ]
|Limb-girdle muscle atrophy||
Wasting of limb-girdle muscle
|Limb-girdle muscle weakness||0003325|
|Proximal muscle weakness||0003701|
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.
Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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.