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|
Difficulty articulating speech
Inability to produce voice sounds
|Skeletal muscle atrophy||
|5%-29% of people have these symptoms|
|Abnormality of lipid metabolism||0003119|
Type 2 diabetes
Type II diabetes
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the mouth||
|Calf muscle hypertrophy||
Increased size of calf muscles
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
|Limb 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.
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. Submit a new question
I want to know more about this disease, especially the newest treatment of this disease. How can I get more useful information? See answer
I have Kennedy disease. Lately, I've had trouble coughing up phlegm. I've also been hoarse and at times have a weak and raspy voice. An ENT told me two years ago that I have lost some elasticity in my larynx. Does Kennedy disease cause these types of problems? See answer
My wife is showing many symptoms of this disease and is a confirmed carrier. Is it possible that she has it? See answer