Trusted Resources: Education
Scientific literature and patient education texts
Spinal Muscular Atrophy Fact Sheet
source: National Institute of Neurological Disorders and Stroke
year: 2021
summary/abstract:What is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. Motor neurons control movement in the arms, legs, chest, face, throat, and tongue. When there are disruptions in the signals between motor neurons and muscles, the muscles gradually weaken, begin wasting away and develop twitching (called fasciculations).
What causes SMA?
The most common form of SMA is caused by defects in both copies of the survival motor neuron 1 gene (SMN1) on chromosome 5q. This gene produces the survival motor neuron (SMN) protein which maintains the health and normal function of motor neurons. Individuals with SMA have insufficient levels of the SMN protein, which leads to loss of motor neurons in the spinal cord, producing weakness and wasting of the skeletal muscles. This weakness is often more severe in the trunk and upper leg and arm muscles than in muscles of the hands and feet.
read more
Related Content
-
Carrier Screening for Genetic ConditionsCarrier screening is a term used to desc...
-
Spinal Muscular Atrophy 2020: SMA Medications for Treatment Updateshttps://www.youtube.com/watch?v=dnSXnvrO...
-
Spinal Muscular Atrophy With Respiratory Distress <br /> Type 1: A Novel Variant of IGHMBP2 GeneSpinal muscular atrophy (SMA) with respi...
-
Sofia’s Story – Johns Hopkin’sOn the morning of Friday, Aug. 23, 2019,...
-
Identification of Specific Gene Methylation Patterns During Motor Neuron Differentiation From Spinal Muscular Atroph...Spinal muscular atrophy is a progressive...
-
New Treatment Can Help Fresno Infant With Rare Genetic DisorderA Fresno family is holding onto hope aft...
-
Comparison of Nusinersen and Evrysdi in the Treatment of Spinal Muscular AtrophySpinal Muscular Atrophy (SMA) is a genet...