01
- Entity Type
- Diseases
- Relation Groups
- 2
- Relation Preview
- 16
Basic Information
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Core Information
- Disease Name
- Spinal Muscular Atrophy
- Standard Disease Name
- spinal muscular atrophy
- MeSH Tree
- No data
- ICD-10
- G12.9
Identifiers
- DO ID
- No data
- MeSH ID
- D009134
- OMIM ID
- MTHU047788
- UMLS ID
- C0026847
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.|MSH2017_2016_08_12:A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)|MEDLINEPLUS_20151021:<p>Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control.</p> <p>SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family.</p> <p>There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|HPO2016_07_04:Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [HPO:probinson]
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