Amyotrophic Lateral Sclerosis (ALS) is a group of neurodegenerative diseases in which the motor nerve cells of the brain, brainstem and medulla are affected. This results in loss of function and muscle atrophy. In this article we talk to Dr. López-Ventura, a specialist in Neurology, so that he can explain a little more about this disease.
Are there different types of ALS?
Yes, there are several types:
- Sporadic (most common)
- Familial
- Territorial (typical of the island of Guam).
They are further classified into:
- Classic ALS formation
- Spinal muscular atrophy
- Progressive bulbar palsy
- Pseudobulbar palsy
- Primary lateral sclerosis
What may be its causes?
ALS affects people between 40 and 70 years of age, with a higher incidence in males. The cause is unknown but seems to be linked to the accumulation of proteins (SOD1, TDP43 and FUS) in nerve cells or neurons, which leads to their destruction. It is also related to accumulation of glutamate, a neurotransmitter. As there are different forms, it is suspected that the cause may be diverse. There are genetic factors (such as mutation of a gene) but there are also studies that point to an autoimmune origin.
What are the main symptoms that cause this type of disease?
Although the disease varies in each individual, these symptoms may appear:
- Fasciculations (involuntary muscle contractions in hands and feet).
- Progressive loss of motor function: loss of strength and clumsiness, especially in the hands and feet.
- Muscle fatigue (loss of strength with exercise)
- Frequent falls, due to leg involvement
- Uncontrollable crying or laughing
- Difficulty articulating words or swallowing
How is the diagnosis made?
The diagnosis should be made by a specialist in Neurology through:
- Clinical examination
- Imaging tests
- Laboratory tests -including analysis of cerebrospinal fluid obtained by lumbar puncture-.
- Neurophysiological tests
Is there a cure?
Unfortunately, there is no curative treatment. It is treated with a drug that slows, in part, the progression of the disease. Although not all ALS is the same, the earlier therapy is started, the greater the effect.