What Causes SMA?

What Causes SMA?

SMA is caused by mutations in the SMN1 and other genes. The SMN1 and SMN2 genes are responsible for creation of a protein called survival motor neuron (SMN), which are located in the brainstem and the spinal cord, and control muscle movement.

The SMN1 protein is responsible for the bulk of SMN development. While SMN2 creates small amounts of SMN, the production amount is not enough to allow for normal function if the SMN1 gene is damaged and/or not working. Some patients with Type II, III, or IV have multiple copies of the SMN2 gene, which can help lessen the severity of SMA because they help replace SMN protein missing due to the defective SMN1 gene.

Without SMN, or with only small amounts present, in the brainstem and spinal cord, motor neurons die. This leads to muscle weakness and waste along with a number of complications that vary in severity for patients, most of which are life-altering and life-threatening.

Genetic Condition Caused By SMN1 Gene Mutation

Damage or deficient SMN1 leads to a lack of SMN protein in the brainstem and spinal cord. SMN is responsible for motor neuron development, which control muscle movement.

Lack of Enough SMN Leads To Progressive Symptoms

The lack of SMN leaves patients suffering from a host of life-altering and life-threatening symptoms. These symptoms vary in severity, depending on how much SMN protein patients have to create motor neurons. Symptoms can include the inability to sit, stand, or walk, developmental delay, breathing difficulties, and swallowing difficulties.

Genetic Condition Caused By SMN1 Gene Mutation

Lack of Enough SMN Leads To Progressive Symptoms

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