Have you ever wondered what is behind the cause of Spinal Muscular Atrophy (SMA)? 🤔This understanding was essential to provide the development of efficient therapies, and I think it's important to share this issue with you, followers.👇

in the patient with #AME, there is a loss of spinal cord cells — motor neurons — which leads to progressive muscle weakness and atrophy, as the muscles stop receiving signals from the Central Nervous System.

➡ SMA is caused by a #mutation in the survival motor neuron 1 gene, responsible for the production of the Survival Motor Neuron (SMN) protein which, in turn, is responsible for maintaining the health and normal function of motor neurons.

➡ In a patient with this rare disease, mutation of SMN1 genes leads to decreased production of SMN protein, leading to loss of #neurons motors in the spinal cord and, consequently, preventing the muscles from receiving adequate signals from the brain.

I hope I was clear in my explanation.😊