Type 0 is the worse type of spinal muscular atrophy (SMA).
Fetuses that have this severe form of SMA typically die within the womb. A newborn can likely survive up to 12 days, based on a recent case study.
SMA severity is mostly linked to the SMN (which stands for survival motor neuron) protein in their body.
Most children who have type 1 spinal muscular atrophy have the SMN2 gene; babies diagnosed as Type 0 don’t have as many copies of the SMN2 gene as those SMA type 1 babies. A recent case study confirmed that the SMN gene mutation does play a protective role in this awful disease.
The woman involved in the case noticed that her fetus was not moving like a normal one would in the womb. This occurred two weeks prior to her giving birth. Tests showed that extra fluid was found in the amniotic sac which is the place where the unborn baby grows in the womb. The mother later gave birth at 38 weeks. The baby was intubated to help with breathing but passed away after that assistance was removed. Also, after 9 days, the baby did not have normal reflexes. The patient could not gag or suck and experienced contractures or the hips, knees, shoulders, and elbow.
Researchers noted that the baby in the study had less copies of the SMN2 gene than children that have SMA type 1.
Carriers, patients, and families with SMA are urged to get genetic counseling. Ultimately, if both parents are carriers, there is a 25% likelihood that the child with have SMA.
Click here to read about the case study.
