SMA

Spinal Muscular Atrophy is a genetic deletion of the gene Survival Motor Neuron 1 that causes degradation of motor neurons that is present in 1 of 6000 live births. There are 4 forms of the disease 1 being the earliest onset and most severe, 4 being adult onset and the most mild. Symptoms generally present as muscle weakness, decreased muscle tone, respiratory problems, failure to thrive, etc. Also known as Floppy Baby Syndrome.

There was a baby in the ED yesterday with type 1 SMA and that description does not do the disease justice...it is just sad to see a helpless little human struggling to breathe, struggling to exist.