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.