|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal recessive inheritance||-|
|Deposits immunoreactive to beta-amyloid protein||-|
|Distal muscle weakness||-|
|Elevated serum creatine phosphokinase||-|
|EMG: myopathic abnormalities||-|
|Limb-girdle muscle atrophy||-|
|Limb-girdle muscle weakness||-|
|Proximal muscle weakness||-|
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.
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.