Orpha Number: 266
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|
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
|Shoulder girdle muscle weakness||
Weak shoulder muscles
|30%-79% of people have these symptoms|
|Difficulty climbing stairs||
Difficulty walking up stairs
Difficulty in standing
|Distal muscle weakness||
Weakness of outermost muscles
|Elevated serum creatine kinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
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|
|Fatty replacement of skeletal muscle||0012548|
|Foot dorsiflexor weakness||
|Hip flexor weakness||0012515|
|Inability to walk||0002540|
|Increased endomysial connective
|Increased variability in muscle fiber diameter||0003557|
|Limited elbow flexion||0006376|
|Limited knee flexion/extension||0005085|
|5%-29% of people have these symptoms|
Swallowing difficulty[ more ]
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone[ more ]
|Reduced maximal inspiratory pressure||0012496|
|Reduced vital capacity||0002792|
|Percent of people who have these symptoms is not available through HPO|
Shortening of the achilles tendon
Tight achilles tendon[ more ]
Symptoms begin in adulthood
Absent tendon reflexes
Disease of the heart muscle
Distal muscle wasting
|Hyporeflexia of lower limbs||0002600|
|Muscle fiber cytoplasmatic inclusion bodies||0100303|
Muscle pain[ more ]
Peripheral nerve disease
|Progressive distal muscle weakness||0009063|
Signs and symptoms worsen slowly with time
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.
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.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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