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||
|Percent of people who have these symptoms is not available through HPO|
|Decreased fetal movement||0001558|
|EMG: neuropathic changes||0003445|
|Proximal muscle weakness in lower limbs||0008994|
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|Spinal muscular atrophy||
Spinal muscle degeneration
Spinal muscle wasting[ more ]
Twitching of the tongue[ more ]
|Ventricular septal defect||0001629|
An unaffected sibling of a person with SMA1 has a 2/3 chance to be a carrier.
Approximately 2% of cases of SMA1 are not inherited from both parents. In these cases, the affected person inherits one mutated copy of the gene from one carrier parent, and has a new mutation that occurs for the first time in the other copy of the gene.
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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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy
November 29, 2017
FDA Approves First Drug for Spinal Muscular Atrophy
January 11, 2017
18th Annual International Spinal Muscular Atrophy Research Group Meeting
Thursday, June 12, 2014 -
Saturday, June 14, 2014
Location: Gaylord National , National Harbor, MD
The overall goal of the meeting is to provide a venue for researchers to share unpublished data and to develop collaborations, with the intent of accelerating the discovery of a treatment for this devastating disease. In addition, the specific aims for the conference are: 1.To enable open communication of early, unpublished scientific data, accelerating the pace of research. 2.To provide a forum to discuss timely topics in SMA openly with the entire research community. 3. To create a sense of community among SMA researchers, resulting in productive research partnerships.
Contact: Dr. John D. Porter(301) 496-5739 email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, 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
My brother and sister both died of Werdnig Hoffmann disease. I am now married with 4 children of my own. Is there a genetic test for me to see if I carry this gene and could have passed it on to my kids? See answer
Is there any correlation between spinal muscular atrophy 1 and cortical visual impairment? See answer