Amyotrophic lateral sclerosis
"The ALS patient maintains his or her intellectual capacity intact and is aware of the progressive progression of the disease. The adaptation of the patient and his family to this disabling process requires the professional support of a multidisciplinary team".
DR. VICENTE GAJATE GARCÍA
SPECIALIST. NEUROLOGY DEPARTMENT
Motor neuron diseases are a group of pathologies that cause degeneration of these neurons.
Motor neurons are, in simplified form, the neurons that are directly responsible for muscle contraction. There is a motor neuron at the level of the brain (first motor neuron), which initiates the stimulus that will lead to movement, and a motor neuron at the level of the spinal cord (second motor neuron), which transmits the information directly to the muscle through the nerves. The best known of these motor neuron diseases is amyotrophic lateral sclerosis or ALS.
ALS is a progressive form of motor neuron degeneration that causes symptoms of muscle weakness and atrophy. The loss of motor neurons causes muscle cells to lose their support, resulting in muscle degeneration (atrophy and fasciculations) and weakness.
The ultimate cause leading to neuronal degeneration in ALS is currently unknown. Diagnosis is based on clinical features of the patient and on the exclusion of pathologies that may simulate it. It is important to note that the most frequent forms are those without familial association (sporadic), only 5-10% are familial forms.
What are the symptoms of ALS?
The main symptom is progressive NON painful weakness and muscle atrophy, being frequently at the beginning limited to one extremity or at the level of the mouth and throat musculature (bulbar form). Over time it affects other regions and is often asymmetrical.
In addition to muscle weakness and atrophy, other symptoms reflecting the loss of motor neurons are frequent. Thus, fasciculations, movements of small muscle fibers in a rhythmic and non-voluntary manner, are frequent.
It is important to clarify that fasciculations alone do not imply motor neuron disease. Other symptoms that may be associated are difficulty in swallowing (dysphagia), pronouncing certain words (dysarthria) or breathing normally (dyspnea). Muscle cramps may also appear and may sometimes be painful.
At no time are the sense organs (hearing, sight, taste or smell), sphincters or sexual function affected. The cardiac musculature is not affected either.
The most common symptoms are:
- Loss of strength.
- Muscle atrophy.
- Fasciculations.
- Cramps.
Do you have any of these symptoms?
You may have amyotrophic lateral sclerosis
How is ALS diagnosed?
The diagnosis of ALS is mainly clinical, demonstrating second motor neuron involvement with or without involvement of the first motor neuron, ruling out pathologies that may simulate the disease, i.e. that cause weakness in the same distribution that the patient presents. In 2020, with the new Gold-Coast diagnostic criteria for ALS, the diagnosis has been simplified and allows early diagnosis.
Complementary tests are necessary to rule out other pathologies, for example, cervical MRI to rule out hernias or compressions at that level, or also cranial MRI, etc. On the other hand, electromyography is necessary, since it supports the diagnosis, as it allows identifying data of second motor neuron involvement even in regions with few symptoms. There is no specific blood marker to indicate whether or not the disease is present, although, as explained above, blood tests are performed to rule out other pathologies.
Familial forms of the disease account for 5 to 10% of cases. In recent years, given the emergence of new treatments and the familial implications of these forms, genetic testing can be performed if the patient consents. It is important to note that since not all the genes that cause these familial forms are known, a negative genetic diagnosis does not completely rule out familial ALS if there is a consistent family history.
How is amyotrophic lateral sclerosis treated?
ALS is a progressive disease that currently has no cure, although some drugs have proven effective in slowing progression. Riluzole is approved in Europe for this purpose.
However, the most important measure is that the patient is followed up in a center where an ALS unit is available. This is a unit made up of multiple specialists: neurologists, pneumologists, rehabilitation specialists, endocrinologists, otorhinolaryngologists, psychologists... who achieve a better treatment of the complications that arise during the course of the disease in an early and effective manner. This measure improves the patient's prognosis.
Finally, a treatment for a specific form of ALS, caused by mutations in the SOD1 gene, has recently been approved. This drug is called Tofersen® and may be beneficial for patients with the mutation in this gene. It is administered intrathecally, i.e., by lumbar puncture.
Where do we treat it?
IN NAVARRE AND MADRID
The Department of Neurology
of the Clínica Universidad de Navarra
The Neurology Department has extensive experience in the diagnosis and multidisciplinary treatment of neurological diseases.
We offer a diagnosis in less than 72 hours, along with a proposal for personalized treatment and post-consultation follow-up of the patient by our specialized nursing team.
We have the most advanced technology for an accurate diagnosis with cutting-edge equipment such as HIFU, deep brain stimulation devices, video EEG, PET and epilepsy surgery, among others.
Why at the Clinica?
- State-of-the-art diagnostic assistance with great work in research and teaching.
- Specialized nursing team.
- We work together with the Sleep Unit.
Our team of professionals
