The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
(present in 5%-29% of cases)
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Skeletal muscle atrophy||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
Undiagnosed Day is April 29th
April 19, 2017
Third NIH Workshop on Gaucher Disease and Parkinsonism Thursday, April 8, 2010 -
Friday, April 9, 2010
Location: NIH- the Cloister, Bethesda, Maryland
Description: Workshop goals were to (1) determine the appropriate human, animal, or cell-based models to better understand this correlation; (2) explore the mechanisms and/or pathways involved; and (3) establish international collaborations to enhance progress in the field and to make recommendations for future study.
Contact: Dr. Ellen Sidransky301firstname.lastname@example.org
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
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
If someone has MSA, is it possible that they do things with out realizing what they are doing is wrong? Does this disease have any impact on them being unable to differ right from wrong. I'm asking this because someone I know has been recently diagnosed with MSA and is in the final stage, he has done some pretty unfavorable things in the past and people are trying to justify this disease played a factor in his mental stability at the time. Is this possible? See answer