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Healthy mind in a conditioned or even paralyzed body. Patients with amyotrophic lateral sclerosis, an incurable and evolving disease, are “complex and fragile”: they can no longer walk, speak, chew and become dependent on caregivers. On World Amyotrophic Lateral Sclerosis Day, Alexandra Mineiro, ULS São José pulmonologist and teacher, helps to clarify some issues about this neurological disease.
A eAmyotrophic lateral sclerose (SHE) It is a rare disease that evolves “quickly”. In Portugal, it is estimated that there are more than 1,000 people with the pathology, but this number should increase. Patients are no longer able to walk, talk, chew and even perform small tasks, are short of breath and are dependent on caregivers. The Portuguese musician Zeca Afonso died with her at the age of 57. Already the physical Stephen Hawking was the exception: he died at age 76, lived 55 with the disease.
What is it?
Rare, degenerative and irreversibleaeAmyotrophic lateral sclerose (She) is a neurological disease that evolves “quickly”. Since the beginning of symptoms, the patients live on average between 3 and 5 years due, above all, “involvement of respiratory muscles”. However, with the help of ventilatory support many people will be able to live more years. Each case is a case.
Alexandra Mineiro, Pulmonologist at ULS São José and Teacherexplains that she is characterized by a “degeneration Progressive motor neuron cells at brain and marrow level “.
“These cells or neurons are responsible for the control of muscles that allow us to mobility, walk, speak, chew or swallow,” he explains.
In practice, he says, the motor neurons that lead the brain information to the muscles of our body, through the spinal cord, die early.
The evolution of the disease “is variable”, but always ends up “there is a Diffuse involvement of all muscles“, adds the teacher.
Although it is irreversible, treatments “decrease the progression of the disease and ensure quality of life” to the patient.
“In addition, there are many variables that lead to different paths depending on the characteristics of the patient. For example, in younger patients the evolution tends to be slower. About 10 to 20% have overlapping over 10 years,” says the doctor from ULS São José.
It is a disease “ unknown cause“, however, about 10% of cases may have genetic origin. According to the pulmonologist, it is more prevalent in males and the Caucasian breed.
Its prevalence is around 5 per 100,000 inhabitants in Europe. It is estimated that in Portugal affects more than 1,000 people, a prevalence that indicates Alexandra Mineiro, “Associated with population aging, it tends to increase. “
What are the first symptoms?
Alexandra Mineiro explains, in an interview with SIC Notícias, that there are “various forms of presentation” from her. The most frequent involves muscles of the arms and legs, provokeso difficulty “at the level of march and the execution of small tasks”how to tighten the collar of the shirt.
“There is progressive loss of muscle strength, rigidity and atrophy,” says the doctor.
According to the appeal, the sick reports “Small involuntary muscle contractions, fatigue and cramps “. It is common to occur inexplicable falls, hands or feet, loss of strength, dragged voice, hoarseness. If you present some of these symptoms, which persist over time and get worse, it is advisable to consult the doctor, warns the association.
The expert consulted by SIC Notícias says that Amyotrophic lateral sclerosis also causes Difficulty in “articulation of words, changes in chewing and swallowing”.
The progressive loss of motor neurons leads to a “Loss of strength and muscle coordination, inability to climb stairs, walk and lift.” O choking It is “frequent”.
Over time, the Sick “lose their ability to take care of themselves and are dependent on caregivers”although current devices and technologies “allow a lot of autonomy”. Respiratory involvement is “inevitable”. It may translate into shortness of breath, cough or difficulty being lying down.
It has consequences for physical, emotional and financial levels: “They are complex and fragile sick.”
The time between the beginning of complaints and the confirmation of the diagnosis, often more than a year, is “critical,” says the doctor. In the same vein, spp adds that the “nonspecificity and insidious evolution” of symptoms can make it difficult to diagnose it.
The identification of the disease, “often late”, delays the beginning of care and the proper support, says the teacher.
After the diagnosis, what are the next steps?
After the diagnosis, the referral to a center with experience in the disease “It must be immediate,” explains the pulmonologist from ULS São José.
In addition, the multidisciplinary care is “fundamental”. That is, nutritional assessment (measures to overcome difficulties in food), physical and muscle assessment and help in daily life activities.
Should also be done to Evaluation of pulmonary function and respiratory muscles. In this way, the doctor adds, “you can determine the best time to start ventilatory support.”
The teacher explains that approach in a multidisciplinary center, early, “Surely extend survival.”
Is there a way to improve the patient’s quality and lifetime?
There is no cure for it, however, according to the Portuguese Society of Pulmonology, the available medication can slow the progression of the disease.
To SIC Notícias, Alexandra Mineiro says there “Various Therapeutics” that can “modify” the course of the disease and that there are new drugs to be tested.
As spp, the pulmonologist also says that the Current treatments are capable of “improving the quality of life in general”reducing the number of infections and prolonging life. It is, therefore, “Full encompasses” patients in respiratory rehabilitation programs.
“There are several therapeutic possibilities, all leading to increased survival and improvement of quality of life, modifying the natural history of the disease,” says the pneumology expert.
For example, current technology allows “facilitating communication and noninvasive mechanical ventilation, introduced in a timely manner, allows relief from respiratory complaints”.
On the other hand, the Investigation in the area of she has been “gigantic”points out the teacher and medical specialist in Pulmonology. Genetic studies are “promising”, allowing to identify mutations in specific genes.
In addition, it will soon be possible to understand the mechanisms of the disease and its progression, “walking to More definitive treatments“.
In an interview with SIC Notícias, the doctor also states that the end -of -life care and patient preferences “must be discussed at various points of evolution of the disease. “The involvement of palliative care experts” allows you to control some variables, such as pain, breathing difficulty or sedation. “
