Spinalmuscular atrophy (SMA) is one of those rare diseases, moreover chronic, for which treatment is finally looming from a clinical perspective. It affects about 1 in 10,000 infants, is characterized by progressive motor neuron death, resulting in disabling muscle weakness, and is the most common genetic cause of infant death.
“We were used to dealing with a condition that was progressive and whose only treatments were palliative, now we have good therapeutic responses, although they differ depending on clinical severity and the timing at which treatment is administered from the onset of symptoms.” says Enrico Bertini, Director of the Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, Bambino Gesù Children’s Hospital, Rome.
A white paper has recently been published on the topic.
“Sma. A Tale of a Revolution”
, produced by Biogen with author Claudio Barnini (downloadable from the link)and in collaboration with the Sma Families Association, which explains how standards of care have changed in just a few years.
“Ten years ago, the first guidelines were published, which provided important recommendations on the clinical care of patients,” notesProf. Eugenio Mercuri, director of the Child Neuropsychiatry Operating Unit at Policlinico Gemelli in Rome. These early guidelines led the way and introduced for the first time the importance of having careful monitoring of certain aspects of the disease, leading to increased survival and the reduction and prevention of many complications. Since then, new needs have emerged that have led to a lengthy review, culminating in 2017 with the publication of recommendations that focus on the day-to-day aspects of disease management. One of the innovations is an attempt to improve and implement more prevention by providing guidance to family and area physicians.”
