Spinal Muscular Atrophy (SMA) is a genetic and hereditary disease characterized by a loss of muscle strength due to the degeneration of motor neurons that are responsible for sending signals to the muscles so that they move, it can even progress to advanced states such as paralysis compromising other body functions. It is estimated that 1 in 10 thousand live births suffer from it, which makes it a rare disease.
Each child shows different symptoms, but it is crucial to pay attention to signs such as:
In the first days of life, the newborn cries very quietly.
Anatomically, their legs have a greater opening than a normal child.
The constant trembling of the tongue (known as lingual fasciculation).
Very strong diaphragmatic breathing, that is, a greater lifting of the abdominal part.
Problems carrying out simple actions such as rotating, sitting without support, walking regularly, breathing or feeding.
Falls without an obvious cause or simple manipulation of objects.
Weakness in the muscles responsible for supporting the back.
Direct witnesses of Spinal Muscular Atrophy
For Diana Sánchez, the fight began on June 14, 2018 when her son Emiliano was one year old and was diagnosed with SMA type II, characterized by weakness, muscle pain, joint stiffness and spinal problems.
Today Emiliano is 8 years old; however, among his physical limitations are the inability to walk and the weakness of certain muscles that do not allow him to do daily activities. His main care is that he requires a good posture, to avoid contractures and deformities; a balanced diet with protein reinforcement; rehabilitation therapy and bipedestation exercises (standing on two legs).
This approach has allowed the child to make progress such as improved posture, muscle activation to perform activities that he could not do before, and to give him autonomy in everyday movements that are normal for a child of his age under normal conditions. On a cognitive level, he is in optimal condition.
Another direct witness of SMA is María José Castro Soto and her daughter Amalia. Her pregnancy was uneventful; furthermore, as first-time parents, she and her husband did not notice any important symptoms nor was there a medical comment for any suspicion, despite the fact that the baby had her pediatric counseling, stimulation and breastfeeding, from the first days of life.
Amalia was diagnosed at 4 months of age. After a pediatric consultation, it was determined that she had weakness when moving her legs, lifting her head, and other mobility findings, so she was urgently referred to the National Children’s Hospital (HNN) where the neurologists in charge diagnosed her with Spinal Muscular Atrophy, type I, the most aggressive of all. The race for an adequate treatment to improve Amalia’s quality of life began once her SMA was determined, and it was thanks to the SMA Foundation and the medical staff at HNN that access to the medication was achieved.
For 3 months Amalia had her treatment and the care required for her condition; however, her weakness in breathing led to medical complications and she died on May 25, 2024, at 10 months of age.
Early detection of Spinal Muscular Atrophy
According to Dr. Tanya Lobo, a physician and genetic biologist, the earlier SMA is diagnosed, both at the molecular and clinical level, the more its progress can be modulated and appropriate management determined. Part of this process is to be attentive to signs in children that indicate setbacks in developmental milestones, such as the sucking reflex, lifting the head and arms, holding objects, turning over, or maintaining muscle tone appropriate to their age. Early detection allows for more effective intervention and improved prognosis.
The traditional classification of spinal muscular atrophy (SMA) is based on the age of onset of symptoms and motor function at the time of diagnosis. However, it is important to understand that this approach has evolved into a broader view, considering SMA as a clinical spectrum, due to variations in the presentation and progression of the disease.
SMA type I: It occurs in the first months of life. Patients never manage to sit without support, cannot hold their head up or turn around, and, without help for ventilation, do not live more than 2 years.
SMA type II: Symptoms begin to manifest between 6 and 18 months. They are characterized by muscle weakness and pain, joint stiffness, and can evolve into musculoskeletal problems, such as scoliosis. They reach adulthood.
SMA type III: Its severity is lower, and it begins after 18 months of age. Patients are able to walk, but experience muscle weakness and pain, show signs of joint deterioration, and some lose the ability to walk. They reach adulthood.
According to Dr. Lobo:
There are clinical criteria that make us suspect possible cases of SMA. To confirm or rule out, we use molecular tests from peripheral blood to determine if the child has alterations in the gene called SMN1. Motor neurons depend on the SMN1 protein for their proper functioning. When both parents transmit an altered copy of the SMN1 gene, the body cannot produce this essential protein, which interrupts the functioning of the neurons with the muscles. This alteration causes the development of spinal muscular atrophy.
Support network for patients with Spinal Muscular Atrophy
Fundación SMA Costa Rica aims to inform about the existence of the disease; raise awareness about the comprehensive approach and solutions that patients require to improve their quality of life; guide and raise awareness among families about the impact it generates in their core; and make the disease visible within public health systems through early detection, diagnosis and appropriate treatment.
Diana Sánchez, Emiliano’s mother and founder of the AME Costa Rica Foundation, says:
As a Foundation, we call on the front line of health care to thoroughly explore those symptoms that are not normal in the development of a minor, since many times they are only confused with slow evolutionary development. A comprehensive approach by medical personnel is key to saving and improving the quality of life of pediatric patients.
As part of its collaborative work in the public sector working groups, the NGO was part of the team that promoted Law 23,257 “Prevention and comprehensive health care for people with rare diseases to improve their quality of life and that of their families” in 2024. In addition, it works with its counterparts in Panama, the Dominican Republic, Ecuador, Mexico, Peru and Bolivia in the dissemination of information and joint activities.
Sánchez concluded:
Our goal is to make SMA disease visible in the country. We know that, as it is a rare disease, there are few people in the country with this condition, but we want to be a bridge to support patients and their families, in addition to raising awareness among the general population and the importance of early detection and adequate treatment.
People who want to get in touch with the AME Costa Rica Foundation can call 7108-2515, write to the email [email protected] or search for them on social networks as Fundación AME Costa Rica.
