Spinal Muscular Atrophy malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Aliases & Descriptions for Spinal Muscular Atrophy:
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
NINDS:46 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.
MalaCards based summary: Spinal Muscular Atrophy, also known as sma, is related to proximal spinal muscular atrophy type 2 and spinal muscular atrophy with progressive myoclonic epilepsy. An important gene associated with Spinal Muscular Atrophy is IGHMBP2 (Immunoglobulin Mu Binding Protein 2), and among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and RNA transport. Affiliated tissues include spinal cord, brain and testes, and related mouse phenotype muscle.
Disease Ontology:10 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
NIH Rare Diseases:45 Spinal muscular atrophy (sma) refers to a group of inherited conditions that affect the muscles. the severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. in general, people with sma experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. breathing and swallowing may also be affected in severe cases. sma is generally caused by changes (mutations) in the smn1 gene and is inherited in an autosomal recessive manner. extra copies of the smn2 gene modify the severity of sma. rare autosomal dominant (caused by mutations in dync1h1 or vapb) and x-linked (caused by mutations in uba1) forms of sma exist. treatment is based on the signs and symptoms present in each person. last updated: 1/7/2016
MedlinePlus:35 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. 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. 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. nih: national institute of neurological disorders and stroke
Genetics Home Reference:23 Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. There are many types of spinal muscular atrophy distinguished by the pattern of features, severity of muscle weakness, and age when the muscle problems begin.
Wikipedia:68 Spinal muscular atrophy (SMA), also called autosomal recessive proximal spinal muscular atrophy in order... more...
GeneReviews summary for NBK1352
Drugs for Spinal Muscular Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 95)
Interventional clinical trials:(show top 50) (show all 142)
Search NIH Clinical Center for Spinal Muscular Atrophy
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spinal Muscular Atrophy cell therapies at LifeMap Discovery.
MalaCards organs/tissues related to Spinal Muscular Atrophy:33
Spinal cord, Brain, Testes, Breast, Lung, Endothelial, Bone
Articles related to Spinal Muscular Atrophy:(show top 50) (show all 1003)
Search GEO for disease gene expression data for Spinal Muscular Atrophy.
Cellular components related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:
Biological processes related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:
Molecular functions related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet