The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Fatty replacement of skeletal muscle | Very frequent (present in 80%-99% of cases) |
| Foot dorsiflexor weakness | Very frequent (present in 80%-99% of cases) |
| Mildly elevated creatine phosphokinase | Very frequent (present in 80%-99% of cases) |
| Muscle fiber inclusion bodies | Very frequent (present in 80%-99% of cases) |
| Tibialis muscle weakness | Very frequent (present in 80%-99% of cases) |
| Absent Achilles reflex | Frequent (present in 30%-79% of cases) |
| EMG: myotonic discharges | Frequent (present in 30%-79% of cases) |
| EMG: positive sharp waves | Frequent (present in 30%-79% of cases) |
| Hip flexor weakness | Frequent (present in 30%-79% of cases) |
| Hypothyroidism | Frequent (present in 30%-79% of cases) |
| Increased variability in muscle fiber diameter | Frequent (present in 30%-79% of cases) |
| Limited shoulder movement | Frequent (present in 30%-79% of cases) |
| Limited wrist extension | Frequent (present in 30%-79% of cases) |
| Shoulder girdle muscle weakness | Frequent (present in 30%-79% of cases) |
| Steppage gait | Frequent (present in 30%-79% of cases) |
| Abnormality of the right hemidiaphragm | Occasional (present in 5%-29% of cases) |
| Facial palsy | Occasional (present in 5%-29% of cases) |
| Lower limb amyotrophy | Occasional (present in 5%-29% of cases) |
| Scapular winging | Occasional (present in 5%-29% of cases) |
| Shoulder girdle muscle atrophy | Occasional (present in 5%-29% of cases) |
| Very rare (present in 1%-4% of cases) |
|
| Weakness of long finger extensor muscles | Very rare (present in 1%-4% of cases) |
| Adult onset | - |
| - | |
| Deposits immunoreactive to beta-amyloid |
- |
| Distal amyotrophy | - |
| Distal muscle weakness | - |
| Elevated serum creatine phosphokinase | - |
| EMG: myopathic abnormalities | - |
| Gait disturbance | - |
| Limb-girdle muscle atrophy | - |
| Limb-girdle muscle weakness | - |
| Proximal muscle weakness | - |
| Rimmed vacuoles | - |
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.
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.
