All about spinal muscular atrophy (SMA)  causes of spinal muscular atrophy symptoms of spinal muscular atrophy diagnosis of spinal muscular atrophy treatment for spinal muscular atrophy |
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What is spinal muscular atrophy (SMA)?
Spinal muscular atrophy is a degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Spinal muscular atrophy is a genetic disease characterized by progressive loss of lower motor neurons (anterior horn cells) in the spinal cord, resulting in symmetric muscle weakness and atrophy. The onset of the progressive muscle weakness ranges greatly in age from before birth to adulthood. The muscle weakness is progressive. Molecular genetics studies have disclosed that spinal muscular atrophy (SMA), irrespective of the age at the onset of symptoms, is due to mutation of one gene called the SMN gene.
Spinal muscular atrophy is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. More patients with Werdnig Hoffman disease (SMA1) than other types of SMA have NAIP deletions. The relationship between specific mutations in the SMN gene and nearby genes and the severity of SMA is still being investigated so classification of SMA subdivisions is based on age of onset of symptoms and maximum function achieved, as opposed to the genetic profile. Other types of SMA exist with different prognoses. |
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More information on spinal muscular atrophy (SMA)
What's spinal muscular atrophy (SMA)? - Spinal muscular atrophy is a degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness.
What causes spinal muscular atrophy? - Spinal muscular atrophy (SMA) that is caused by a deletion of the SMN gene on chromosome 5 is an inherited progressive neuromuscular disorder.
What are the symptoms of spinal muscular atrophy? - Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems.
How is spinal muscular atrophy diagnosed? - The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing.
What's the treatment for spinal muscular atrophy? - The goal of treatment of spinal muscular atrophy is to prevent respiratory problems and provide adequate nutritional care to the child. |
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