Orpha Number: 98912
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||
|30%-79% of people have these symptoms|
|Fatigable weakness of distal limb muscles||0030198|
|Intrinsic hand muscle atrophy||0008954|
|Progressive proximal muscle weakness||0009073|
|5%-29% of people have these symptoms|
|Leg muscle stiffness||0008969|
|Weakness of long finger extensor muscles||0009077|
|Weakness of the intrinsic hand muscles||0009005|
|1%-4% of people have these symptoms|
|Abnormal left ventricular function||0005162|
Disease of the heart muscle
|Decreased Achilles reflex||0009072|
|Decreased patellar reflex||
Decreased knee jerk reflex
|Foot dorsiflexor weakness||
Impaired gait[ more ]
|Generalized muscle weakness||0003324|
|Limb-girdle muscle weakness||0003325|
|Proximal muscle weakness in upper limbs||0008997|
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.
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.
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