A two-and-a-half-year-old girl has shown no signs of a genetic disorder, known as spinal muscular atrophy (SMA), becoming the first person in the world to be treated for the disease while in the womb.
SMA is a debilitating genetic condition which affects motor neurons that control movement, and leads to progressive muscle weakening.
Caused by - Mutations in the survival motor neuron gene (SMN1) which causes a deficiency of a protein crucial for the survival of motor neurons in the spinal cord.
This prevents muscles from receiving signals from the brain, causing them to waste away.
Types of SMA
Type I - Usually diagnosed before age 3
Type II -Begins to affect children between 6–18 months old
Type III - Also called Kugelberg-Welander syndrome or juvenile SMA, begins to affect kids as early as 18 months of age or as late as adolescence
Type IV- The adult form of SMA, symptoms usually begin after age 35.
In its most severe form, SMA-1, motor skills decline rapidly and patients usually only live two to three years.
Prognosis - About one in every 10,000 births have some form of the condition making it a leading genetic cause of death in infants and children.
Recent application in Treatment - For the treatment, scientists used an oral drug called risdiplam, which is given to patients to slow the progression of SMA.
Risdiplam is typically given to a patient soon after birth.
The mother, who was 32 weeks pregnant, took Risdiplam daily for 6 weeks.
The baby started taking the drug from roughly one week old, and will probably continue to take it for the rest of her life.
The scientists found that the girl had higher levels of the SMN protein in her bloodstream, compared to those usually born with the condition.
The girl seemed to have lower levels of nerve damage, and even after 30 months had normal muscle development with no sign of atrophy.
