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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. The HPO collects information on symptoms that have been described in medical resources.
The HPO is updated regularly. Learn more orphan products. 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.
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. 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. Inclusion on this list is not an endorsement by GARD. 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. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Spinal muscular atrophy type 3. You can help advance rare disease research! This disease is grouped under:. Spinal muscular atrophy.
Summary Summary. The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Proximal spinal muscular atrophy type 3 SMA3 is a relatively mild form of proximal spinal muscular atrophy see this term characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. Clinical description. The disease manifests after 12 months of age usually between childhood and adolescence , after ambulation has been acquired.
Difficulties walking, running, and going up and down stairs are common. The muscle weakness predominantly affects the legs and hip muscles and then progresses to the shoulders and arms. Legs are always more severely affected than arms. Weak finger trembling and scoliosis are frequent and the patellar reflex is absent. Deletions of the NAIP 5q Diagnostic methods. Diagnosis is based on clinical history and examination but is confirmed by genetic testing.
Electromyography and muscle biopsy may be necessary. Differential diagnosis. Differential diagnoses include amyotrophic lateral sclerosis, congenital muscular dystrophies, congenital myopathies, primary lateral sclerosis, myasthenia gravis, and carbohydrate metabolism disorders see these terms.
Antenatal diagnosis. Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villus samples.
Genetic counseling. Genetic counseling should be offered to patients and their families. Clinical trials to identify specific drug treatments for SMA are ongoing, and preliminary studies have indicated that valproic acid as a histone deacetylase inhibitor may improve quantitative muscle strength and subjective motor function in SMA3 patients.
However, at present, management is symptomatic, involving a multidisciplinary approach aiming to improve quality of life. Physiotherapy and occupational therapies are recommended. A wheelchair may be required during childhood for some patients more commonly those with SMA3a , whilst others retain the ability to walk into adulthood more commonly those with SMA3b.
SMA3 progresses slowly and life expectancy is usually normal. However, deformities of the vertebral column are frequent and complications may lead to respiratory restriction. Visit the Orphanet disease page for more resources. Symptoms Symptoms. Showing of 12 View All. Tremor of hand. Tremor of hands.
Decreased reflex response. Decreased reflexes. Worsens with time. Weakness in muscles of upper arms and upper legs.
Spinal muscle degeneration. Spinal muscle wasting. Tongue twitching. Twitching of the tongue. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease? Treatment Treatment. Nusinersen Brand name: Spinraza - Manufactured by Biogen, Inc FDA-approved indication: December , nusinersen Spinraza was approved for the treatment of spinal muscular atrophy in pediatric and adult patients.
Find a Specialist Find a Specialist. Their free Ask the Expert feature connects you with SMA physicians and clinicians, who can answer questions on a wide variety of health-related topics. Click on the link to learn more. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.
Organizations Organizations. Organizations Supporting this Disease. Do you know of an organization? Learn More Learn More. This website is maintained by the National Library of Medicine.
In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.
This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Spinal muscular atrophy type 3. Click on the link to view a sample search on this topic. Have a question? Share this content:. Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed.
Spinal muscular atrophy
Spinal muscular atrophy SMA is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. Spinal muscular atrophy is due to a genetic defect in the SMN1 gene. Treatments include supportive care such as physical therapy , nutrition support, and mechanical ventilation. SMA manifests over a wide range of severity, affecting infants through adults. The disease spectrum has been divided into 3—5 types in accordance with the highest attained milestone in motor development.
Spinal muscular atrophy type 3
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