(ANSA) – TURIN, 01 NOV – He had little hope of living and maintaining even a sitting position because he suffered from Spinal Muscular Atrophy (SMA), a rare degenerative genetic disease, but thanks to a revolutionary therapy – genetic and surgical – a three-year-old girl survived and can now walk. The cutting-edge treatment at the Regina Margherita Infant Hospital of the City of Health of Turin, where parents, doctors and therapists, engaged in intensive post-operative rehabilitation, were able to see the little girl standing and are now waiting for the first steps.
The child was subjected to the innovative genetic modulation therapy at the ‘Regina Margherita’ Child Pathology and Care Department of the City of Health of Turin directed by Professor Franca Fagioli. A cutting-edge treatment performed by Dr. Federica Ricci, of the Child Neuropsychiatry team directed by Professor Benedetto Vitiello, in collaboration with the pediatric area of the Neuromuscular Group coordinated by Professor Tiziana Mongini.
The therapy is based on the use of short fragments of genetic material (antisense oligonucleotides, ASO), which allow to produce the missing protein, necessary for the development and survival of motor neurons, “masking” the spontaneous defect of the gene. This therapy must be administered into the cerebrospinal fluid via lumbar puncture, so that it can reach the motor neurons of the spinal cord. The children, after an initial load of four lumbar punctures in two months, continue with administrations every 4 months.
As if that weren’t enough, the shape of her hips wouldn’t allow her to walk properly. For this reason, in recent weeks, the team specialized in hip surgery of the Pediatric Orthopedics of the same Department, composed of Dr. Alessandro Aprato and Dr. Mattia Cravino, has carried out a double intervention to correct the pioneering hip deformity in Italy for a little girl with a severe form of Sma. (HANDLE).
.
Source From: Ansa
I have been working in the news industry for over 10 years now and I have worked for some of the biggest news websites in the world. My focus has always been on entertainment news, but I also cover a range of other topics. I am currently an author at Global happenings and I love writing about all things pop-culture related.
