The Amyotrophic Lateral Sclerosis (ALS) It is a neurodegenerative disease that affects nerve cells in the brain and spinal cord. The prevalence of ALS in Spain is estimated at approximately 4-6 cases per 100,000 inhabitants according to data from the Spanish Association of Amyotrophic Lateral Sclerosis (adELA). On the other hand, the Spanish Society of Neurology (SEN) points out that the disease affects 55,000 people and that Every year more than 2,500 new cases are diagnosed in our country. Although the disease can appear at any age, symptoms occur more frequently in people between 55 and 75 years old and is slightly more common in men than in women, according to the National Institute of Neurological Disorders and Stroke.
ALS is a progressive disease and currently has no cure. The average life expectancy after diagnosis is 3 to 5 years, although some patients overcome that barrier and live longer with the disease. Variations in survival depend on several factors, including the type of ALS, age at symptom onset, and medical care received. “ALS is one of the motor neuron diseases, whose anatomical-neuropathological origin is a degeneration of the motor neurons of the spinal cord, the brain stem or the motor cortex.. It is a degenerative disease with a progressive course that affects the cells of the anterior horn of the spinal cord and the corticospinal pathway, which manifests mainly with muscle weakness and atrophy and increased osteotendinous reflexes,” he explains. Javier López del Val, neurologist at HLA Clínica Montpellier.
Although the exact causes of ALS are not yet fully known, several factors have been identified that may contribute to its development. About 5-10% of ALS cases are hereditary. Several genetic mutations are associated with familial ALS, the most common being the mutation in the C9ORF72 gene. “Three loci of autosomal dominant transmission and two of autosomal recessive transmission have been identified. The ALS1 gene genotypes derived from amyotrophic lateral sclerosis (21q22) is the only one identified so far,” indicates the specialist. It has also been suggested in various studies that exposure to certain environmental toxins, such as pesticides and heavy metals, could increase the risk of developing ALS.. Other studies have found a possible association between head trauma or sports injuries and an increased risk of ALS. Finally, although a direct causal relationship has not been confirmed, some research suggests that certain viral infections could be associated with the disease.
The symptoms are variable in the muscle groups affected and the speed of evolutionary progression, and may affect the upper and lower extremities or facial-swallowing or speaking muscles to a greater extent. “The patient notices a progressive weakness in different muscle groups such as the arms or legs, to which is added an obvious atrophy that justifies the weakness and in many cases associates movements of small muscle groups (fasciculations), which the patient defines as worms that move through the body”comments the specialist.
The diagnosis of ALS is based on a correct clinical history and a neurological examination, looking for the fundamental signs of the disease. The clinical diagnostic criteria for ALS were defined at the meeting of the World Federation of Neurology in El Escorial (1990). On the other hand, the disease is often diagnosed by excluding other neuromuscular diseases through a combination of clinical examinations, electromyographic studies, MRI, and laboratory tests. “The electrophysiological study is considered essential for an adequate differential diagnosis.. Electromyographic alterations include loss of motor units, a large increase in motor unit territory with polyphasic potentials, and spontaneous denervation activity (positive waves, fibrillations, and fasciculations). In the electroneurogram, the nerve conduction velocity is normal; The muscles are atrophic, but the speed at which the nerves conduct is normal, which means that the anomaly is in the spinal cord (anterior horn) or in the cortex,” adds the neurologist.
Treatment of amyotrophic lateral sclerosis (ALS) focuses on manage symptoms, improve quality of life and prolong patient survival, as there is currently no cure for this disease. Among all of them, there is pharmacological treatments, which can prolong survival and delay the need for mechanical ventilation by reducing damage to motor neurons. “In addition to medications, we must add symptomatic treatment that must be associated in case other symptoms appear such as respiratory difficulty, dysphagia, constipation, emotional lability or depressive symptoms, always putting rehabilitative treatment first. Regarding dysphagia, the patient usually accumulates a large amount of saliva in his throat and mouth due to difficulty swallowing.. For several years now, botulinum toxin administered to the salivary glands can be used to reduce saliva production., significantly reducing that problem. HLA Clínica Montpellier is part of the map of national centers with authorization and national experience to administer this treatment,” explains Dr. López del Val.
ALS care typically involves a multidisciplinary team of health professionals that includes neurologists, pulmonologists, physiotherapists, occupational therapists, speech therapists, nutritionists and social workers to provide comprehensive and coordinated care. In turn, palliative care focuses on relieving symptoms and improving quality of life at any stage of the disease.
The evolution of a patient suffering from amyotrophic lateral sclerosis (ALS) is progressive and varies considerably between different people. However, thanks to this multidisciplinary management and comprehensive support, patients’ quality of life can be significantly improved, helping them face the physical and emotional challenges associated with the disease. The typical evolution of ALS includes a first phase in which the patient only presents mild weakness and/or a feeling of clumsiness or atrophy. at some extremity. Later you may have moderate weakness and have difficulty or be dependent in carrying out certain daily activities.
The second phase includes the involvement of more extremities and difficulties with both speaking and swallowing, respiratory muscle weakness or even the need to use respiratory support. “At this stage, the patient is still able to walk short distances, although he practically remains in a wheelchair. The patient requires assistance due to muscle weakness and pressure ulcers and secondary joint retractions may appear due to lack of movement. At this point, it is essential to begin to instruct the patient’s family about the care the patient needs (postural changes, passive mobilizations, etc.),” says the specialist.
The third phase of the disease includes loss of mobility. Most patients eventually lose the ability to walk and use their upper extremities. Severe weakness of the respiratory muscles can lead to respiratory failure, which is the most common cause of death in patients with ALS. “In this phase, the patient needs passive mobilization to avoid the structuring of joint deformities, therefore, in addition to paying attention to the above, the patient will also need: rehabilitation, oxygen therapy and drugs to relieve pain caused by retractions or deformities. There are no more treatments that we can call palliative, since they must begin to be administered as soon as the diagnosis is made, with exhaustive follow-up of each patient,” concludes the neurologist.
ALS research is multifaceted and benefits from international collaboration and continued funding. Although there is still no cure for ALS, advances in understanding the underlying mechanisms of the disease and the development of new therapies offer hope for improving treatment and quality of life for patients. Participation in clinical trials and support for research are essential to continue making progress in the fight against this devastating disease. “Currently there are many centers in the world researching how to treat or how to stop ALS. I want to highlight a study that is being carried out by the Center for Biomaterials and Tissue Engineering (CBIT) of the Polytechnic University of Valencia (UPV), in collaboration with the La Fe Health Research Institute (IIS La Fe), the Biomedical Research Center Network (CIBER) and the University of Zaragoza, “which propose a novel approach to stop neuromuscular degeneration in patients with Amyotrophic Lateral Sclerosis (ALS), although it is currently in the experimental phase,” indicates the doctor.
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