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) |
| Areflexia of lower limbs | - |
| Autosomal recessive inheritance | - |
| Degeneration of anterior horn cells | - |
| EMG abnormality | - |
| Hand tremor | - |
| Hyporeflexia | - |
| Limb fasciculations | - |
| Muscle cramps | - |
| Muscle weakness | - |
| Progressive | - |
| Spinal muscular atrophy | - |
| Tongue fasciculations | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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. Suggest an organization to add.
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.
18th Annual International Spinal Muscular Atrophy Research Group Meeting
Thursday, June 12, 2014 -
Saturday, June 14, 2014
Location: Gaylord National ,
National Harbor,
MD
Description:
The overall goal of the meeting is to provide a venue for researchers to share unpublished data and to develop collaborations, with the intent of accelerating the discovery of a treatment for this devastating disease.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 porterjo@ninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Third Genome Dynamics in the Neurosciences Conference Sunday, July 18, 2010 -
Thursday, July 22, 2010
Location: The Hilton Metropole,
Brighton,
England
Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.
Contact: Dr. Danilo A. Tagle, NINDS(301) 496-5745tagled@mninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
14th International Spinal Muscular Atrophy Research Group Meeting
Thursday, June 24, 2010 -
Sunday, June 27, 2010
Location:
Santa Clara,
California
Description: The overall meeting goal was to bring together junior and established spinal muscular atrophy (SMA) research experts from around the world to share unpublished data and foster a spirit of communication and collaboration. The majority of the leading investigators in SMA attend this conference each year. The conference also brought in young and new researchers into the SMA community, including those located internationally, who do not have opportunities to interact with the recognized thought leaders in this area. It arguably represents the best networking opportunity in the SMA field.
Contact: Dr. John D. Porter(301) 496-5739 porterjo@ninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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The following diseases are related to Spinal muscular atrophy type 3. If you have a question about any of these diseases, you can contact GARD.
