A White Paper discloses this disease that affects the ability of children to walk due to loss of muscle mass
What better than information to break the secrecy that makes rare diseases remain rare for people who do not suffer from them. For this reason, specialists from various disciplines have 'written' the SMA White Book, whose main objective is to publicize spinal muscular atrophy (SMA), a highly disabling disease with progressive loss of muscle strength, which can affect the ability to of a child to crawl, walk, sit, or control head movements. The document is called 'Current situation and challenges of Spinal Muscular Atrophy in Spain', and aims to increase social awareness of SMA.
The publication, in which some thirty experts in the approach to spinal muscular atrophy have participated, has the endorsement of the Spanish Society of Pediatric Neurology (SENEP), the Spanish Society of Neurology (SEN), the Spanish Society of Rehabilitation Children (SERI), the Spinal Muscular Atrophy Foundation (FundAME) and the Spanish Federation of Rare Diseases (FEDER).
“Currently people with spinal muscular atrophy have a variety of therapeutic alternatives that have managed to completely change the face of the disease and the future that those newly diagnosed faced until very recently. This new era for the AME opens up a world of possibilities, a new horizon, and also opens up new challenges; some challenges that are collected in the publication that we present today”, has pointed out Alicia Folgueira, general director in Spain of Novartis Gene Therapies, who has promoted the White Paper.
Globally, the incidence of SMA, a rare and devastating genetic disease, is estimated at 1 in 10,000 live births, with a prevalence of 1-2 patients per 100,000 individuals. In Spain, with a figure of 360,617 births in 2019, an estimated number of new diagnoses of about 36 cases per year in any of its forms of presentation and it is estimated that more than 1 in 50 inhabitants are healthy carriers of the disease And they can pass it on.
Throughout the more than 200 pages that make up the SMA White Paper, specialists who deal with patients affected by this disease every day have analyzed the current situation of SMA in the world and in Spain, have described the general aspects of this pathology and indicating what the prognosis of this disease is after its diagnosis, listing its symptoms and signs that can alarm the presence of this pathology.
The publication places special emphasis on addressing the genetic aspects related to SMA and highlights the importance of neonatal screening as an effective method for early detection of affected patients and that can help prevent irreversible loss of motor neurons. In this sense, Andrés Nascimento, neuropediatrician in the Neuromuscular Pathology Unit of the Neurology Service of the Sant Joan de Déu Hospital in Barcelona and one of the authors who has participated in the preparation of the AME White Paper, points out that the evolution time of the disease and the level of motor function are the main modifiers of therapeutic response in patients with SMA.
“For this reason, the possibility of starting treatment early, in the presymptomatic phase, offers a clear benefit in the most severe forms of the disease compared to starting treatment in symptomatic phases. This forces us to urgently consider the need for neonatal screening for the detection of SMA at a national level”, declared the expert.
This rare disease is an example of how an accurate and early diagnosis, together with the development of new therapies that are capable of modifying the disease from its base, lead to better personalized care for patients with SMA and their families.
And it is that, according to Ignacio Pascual, head of the Pediatric Neurology Service of the La Paz University Hospital in Madrid, and another of the authors who has participated in the preparation of the SMA White Paper, innovation in the treatment of SMA has managed to modify the natural history of the disease together with the comprehensive multidisciplinary management of the patient.
“This multidisciplinary approach in the treatment of patients living with Spinal Muscular Atrophy encompasses various aspects, all of which are examined in the AME White Paper: motor and respiratory rehabilitation, nutrition, respiratory function care, psychological support for family members, surgeries (pediatric orthopedics and traumatology) and the management of the hospitalized patient”, enumerates Pascual, who adds that the general multidisciplinary management is more important when the life expectancy and muscular function of the affected patients have been changed.
For her part, Maria Grazia Cattinari, medical director at the Spinal Muscular Atrophy Foundation (FundAME), has analyzed for this AME White Paper how this disease affects the lives of patients and their families. “SMA can cause motor and mobility limitations, respiratory and swallowing complications, and musculoskeletal complications. In addition, it must be taken into account that this disease has emotional and economic consequences for the whole family. It is worth reflecting on the burdens of the patient and family and the lack of social, economic and institutional support », she indicates.
The document ends by raising the new challenges in the care of patients with SMA, among which are early detection and neonatal screening in SMA, the challenge of communicating the diagnosis to the patient and their families, equity and cohesion in early diagnosis, access and continuity of available treatments, the need for knowledge about the long-term effect of new therapies and, finally, the search for the sustainability of the National Health System with all agents, through of the identification of innovative formulas in the equitable access of patients to these therapies.