Spinal muscular atrophy (SMA): discover 8 myths and truths about the disease

SMA is a rare disease that causes the degeneration and death of motor neurons, directly affecting movement.

Spinal muscular atrophy is a rare disease, characterized by the degeneration and death of motor neurons, which makes it impossible to transmit electrical signals from the brain to the muscles and directly affects movements. Known by the acronym AME, it is caused by a genetic alteration, which affects the production of a protein essential for the survival of these neurons. This causes progressive weakness, which affects the individual’s basic vital functions, such as walking, swallowing or breathing.

Dr. Marcelo Raffo, Neurologist and Neurophysiologist, explains that SMA manifests itself in different ways. According to the specialist, the disease is divided into five types, from 0 to 4, based on the age at which the symptoms begin and the individual’s motor skills.

“Type 3 SMA, for example, also called juvenile SMA, generally begins in late childhood, after 18 months. It directly affects the independence and autonomy of these people, who begin to have compromised motor skills at an extremely productive,” he says.

Since it is a rare disease, with an estimated incidence of 1 case per 10,000 live births and a prevalence of one or two cases per 100,000 individuals, with numerous subtypes and peculiarities, there is still a lot of ignorance on the topic.

“Awareness is essential so that society can be better prepared to manage the challenges imposed on people affected by this disease, in order to guarantee all their rights as citizens and contribute to a better quality of life for them and for their entire network of support”, declares Aline Giuliani, founder of the Viva Íris Institute.

To clear up doubts about spinal muscular atrophy, we have listed some common myths and truths below.

1. It is a genetic disease

REAL. SMA is a consequence of a change in the SMN gene. In cases where parents do not have SMA, both must carry one mutated and one normal allele, passing the altered alleles on to their children. This scenario has a 25% chance that the baby will be born with spinal muscular atrophy in any pregnancy.

2. SMA is discovered at birth

Myth. Individuals are born with SMA, but only type 0 manifests clinical symptoms at birth. In the case of SMA type 3, symptoms appear only after 18 months of life (one year and six months). The main signs are delays in the development of motor stages. Generally the child has difficulty standing and walking independently, or jumping or running.

3. The diagnosis of SMA type 3 is simple and involves only motor problems

Myth. Symptoms of SMA type 3 include muscle weakness, difficulty climbing stairs, walking, jumping, or running, frequent falls, muscle tremors, joint contractures, fatigue, and difficulty breathing. Although clinical assessment of symptoms, family history, electroneuromyography, and imaging tests aid in the diagnosis, diagnostic confirmation occurs through genetic testing, which identifies the SMN gene mutation.

4. Consistent care and a multidisciplinary approach are essential for those suffering from spinal muscular atrophy

REAL. After diagnosis, it is essential that the doctor develops a care routine in collaboration with the multidisciplinary team, the patient, his caregivers and family members, aiming for well-being and quality of life. In the case of children, parental support and encouragement are essential in this process.

Since the disease presents different symptoms, monitoring must involve multiple specialties beyond neurology, such as geneticists, pulmonologists, physiotherapists, speech therapists, nutritionists and other healthcare professionals working together to provide comprehensive support, symptom management and improvement of patients’ quality of life .

Frequent attention from all of these specialties is essential for people with SMA. In recent years, studies have provided a better understanding of the genetic basis of the disease and, therefore, have allowed the development of new therapies that modify the course of the disease, seeking to stabilize or acquire functionality in patients.

Furthermore, it is essential to direct the family to genetic counseling. This makes it possible to provide people with SMA and their families not only with information about the disease, but also with guidance including family planning.

5. Nutrition is an important point in the treatment of SMA

REAL. Despite being a neurological disease, nutritional care makes a difference in the quality of life. Proper nutrition is essential for maintaining body weight and providing energy to muscles. If you have difficulty swallowing, you can adapt your diet to ensure the correct intake of nutrients in other ways.

People with SMA present some challenges when it comes to their nutrition, which is why their diet needs professional monitoring. It is important for all patients to consume vitamin D and calcium for bone health, in order to avoid problems such as osteopenia and osteoporosis.

Depending on the degree of involvement, the multidisciplinary team caring for the patient may also recommend proactive maneuvers, which include the placement of feeding tubes, to minimize future risks of respiratory complications and malnutrition for the patient or parents.

6. All types of SMA have the same progression

Myth. SMA type 3 is characterized by slower progression than more severe types of the disease. However, regardless of speed, as a progressive disease, without early intervention, losses can have a significant impact on the patient’s independence and quality of life. The progression varies from person to person, depending on the clinical conditions and treatment received.

Despite having a slower progression, people with SMA type 3 should not wait to receive the necessary treatment. The earlier you start treatment, the greater your gains will be. Furthermore, it is possible to further delay the progression of the disease, contributing to autonomy and well-being.

7. Degeneration is a common feature of all patients with SMA type 3

REAL. Degeneration of motor neurons is the central feature of all types of SMA. This leads to progressive muscle atrophy and a gradual loss of motor function. However, the earlier disease-modifying multidisciplinary treatment begins, the better the chance of reducing neuron death. Integrated healthcare helps control symptoms, providing a significant improvement in quality of life.

8. Although it is the least aggressive form of the disease, SMA type 3 also presents respiratory compromise.

REAL. Although SMA type 3 is not generally associated with severe respiratory problems, as is common in other types (0,1 and 2), in advanced cases muscle weakness can lead to ventilatory and respiratory compromise. In these cases, the use of non-invasive ventilation devices may be necessary.

Muscle weakness caused by SMA can also affect the respiratory muscles. In the case of wheelchair users, the function of these muscles can be compromised by the progression of scoliosis, which changes the shape of the rib cage. Therefore, people with SMA should have their breathing evaluated regularly to avoid more serious complications. The frequency and type of follow-up are decided on a case-by-case basis by the responsible multidisciplinary team.

Furthermore, it is essential to follow the vaccination program recommended by your doctor, to avoid infections in general and, in particular, respiratory infections. Normally, respiratory monitoring and care vary depending on the patient’s clinical condition.

Source: Terra

Ben

Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.