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|
|Abdominal wall muscle weakness||0009023|
Increased heart size[ more ]
Abnormality of cognition
Mental impairment[ more ]
Swallowing difficulty[ more ]
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
Impaired gait[ more ]
|Generalized muscle weakness||0003324|
Type 2 diabetes
Type II diabetes[ more ]
|30%-79% of people have these symptoms|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
Low or weak muscle tone
|Respiratory insufficiency due to muscle weakness||0002747|
|5%-29% of people have these symptoms|
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
Muscle tissue disease
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Dilatation of the cerebral artery||0004944|
Decreased muscle tone
Low muscle tone[ more ]
Hearing defect[ more ]
|Proximal muscle weakness||0003701|
|Shortened PR interval||0005165|
Increased spleen size
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.
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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.
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.
Newborn Screening for Neuromuscular Diseases: Improving Patient Outcomes and Evaluating Public Health Impact
Thursday, March 3, 2016 -
Saturday, March 5, 2016
Location: St. Louis, MO
Description: This two-day international meeting will bring together experts in newborn screening, pediatrics, and neuromuscular disease as well as other public health stakeholders to review key topics in newborn screening for Pompe disease (already included in the Recommended Universal Screening Panel) and Duchenne muscular dystrophy (DMD) where pilot screening has already begun in the US. The primary goal of this meeting will be addressing the components of 1) laboratory screening and 2) short- and long-term clinical follow-up needed to ensure improved health outcomes in Pompe disease and DMD. We will also discuss how these programs can be implemented to efficiently collect information about the public health and societal impact of population-based neuromuscular screening programs.
Contact: Yaffa Rubinstein, Ph.D.(301) email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
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