Among the diseases categorized as rare we find the LAMS Syndrome, a strange condition that, in Spain, only affects less than 5 per 100,000 people over 14 years old. This alteration of mitochondrial origin seriously affects the neurological functioning of the person and its symptoms manifest themselves until the moment of death.
Throughout this article, we will describe in detail what this hereditary disease is, as well as what its symptoms are, where the origin of the condition lies and how possible treatments are carried out.
What is LAM Syndrome?
The LAM Syndrome is a rare hereditary mitochondrial disease whose main characteristic is the generation of a series of neurological disorders . Mitochondrial category conditions cause certain neurological disorders in the person caused by a mitochondrial genome mutation.
Mitochondria are cytoplasmic organelles formed by eukaryotic cells, whose main mission is to generate energy by consuming oxygen. This organelle is essential for the metabolism of our cells, so any alteration in it can cause serious complications in the health and quality of life of the person.
This syndrome was first described in 1975, but it was not until 1984 that it received its current name. The term MELAS is an acronym for its most distinctive clinical properties:
- ME: Mitochondrial Encephalomyopathy.
- LA: Lactic acidosis.
- S: Stroke-like episodes.
In its first description, the LAM syndrome was described as a set of seizure incidents, gradual language degeneration, lactic acidosis and muscle fiber tearing .
The first symptoms of this condition usually appear during childhood or adolescence, especially between the ages of 2 and 5. Although the development of the disease can vary considerably among those who suffer from it, the prognosis tends to be rather guarded in the vast majority of cases, as patients develop serious health complications until they die.
As for the incidence of LAM syndrome, this is a very rare condition among the population. Although specific data on its prevalence have not been established, it is known that is one of the most common mitochondrial diseases . On the other hand, there is no evidence of a higher prevalence in men or women, or in any specific ethnic or racial group.
What is the clinical picture?
As we have pointed out before, the LAM Syndrome is distinguished by the fact that it possesses several main characteristics that make up its clinical picture and differentiate it from other mitochondrial diseases.
1. Mitochondrial Encephalomyopathy (ME)
Encephalomyopathies are those diseases whose origin is found in alterations in the structure and functioning of the central nervous system, which tend to cause quite frequent convulsive episodes.
These episodes consist of time-limited events during which the person suffers exaggerated motor agitation, involuntary muscle spasm and changes in consciousness and perception. A distinction can be made between focal crises and generalised crises . In focal seizures the abnormal electrical brain activity is usually restricted to a particular area of the brain, whereas in generalised seizures the discharge patterns extend to various brain areas.
The danger of these epileptic seizures lies in the risk that the different brain structures affected will be permanently damaged, generating serious consequences at the cognitive and motor levels.
2. Lactic Acidosis (LA)
The lactic acidosis present in the LAM syndrome consists of an abnormal accumulation of lactic acid . When this substance, which is mainly generated in red blood cells and muscle cells, accumulates in a pathological way, it can lead to a series of very serious health problems that can end up causing the death of the patient.
The main signs that indicate an accumulation of lactic acid include vomiting, diarrhea, nausea, gastric pain, prolonged sleepiness , alterations in consciousness, respiratory problems, hypotension, dehydration and deficits in the supply of blood and oxygen to muscles, tissues and organs.
3. Stroke-like (S)
The stroke-like concept refers to events similar to strokes or brain strokes .
A stroke is a spontaneous, focal event in which blood flow is interrupted in a particular area of the brain. When this happens for just over a few seconds, brain cells begin to deteriorate and die from lack of oxygen and nutrients.
The main consequences of these strokes are alterations in the visual system, in language and in the motor aspect, as well as a gradual cognitive deterioration that can even lead to dementia .
What symptoms do you have?
In the LAM Syndrome, the clinical picture described above is accompanied by a symptomatology that, in spite of being presented in a very disparate way among patients, usually appears in the vast majority of cases.
These symptoms include:
- Migraines and recurrent headaches .
- Nausea and vomiting.
- Cognitive impairment gradual
- Widespread developmental delay.
- Learning disabilities and attention deficits.
- Alterations in the state of consciousness.
- Muscular and motor pathologies such as chronic fatigue, muscle weakness or hypotonia.
- Pathologies in the visual system such as optical atrophy, retinitis or decrease in visual acuity.
- Sensorineural deafness .
- Extreme sensitivity to temperature changes.
Other less common symptoms, but which may also appear during the course of the illness, are those related to the person’s mental and psychological state. These symptoms can be:
- Aggressive behaviour.
- Personality alterations.
- Obsessive-compulsive disorder.
- Anxiety disorders.
- Affective alterations.
What causes it?
As mentioned at the beginning of the article, the LAM syndrome is a disease caused by a mutation in the mitochondrial DNA . Therefore, it is an inherited condition that is transmitted from the mother’s genes.
These alterations occur in a number of specific genes located in the genetic material of the mitochondria. Most of these specific genes are responsible for transforming oxygen, sugars and fats into energy; while some others are involved in the production of tRNA molecules responsible for building the amino acid structures.
What is the treatment and prognosis?
For the moment, no specific treatment has been developed for LAM Syndrome, but specific treatments are carried out for each of the symptoms presented by the patient, as well as a series of palliative care to improve their quality of life.
Within the usual protocol, a group of specialists including neurologists, cardiologists, ophthalmologists, or endocrinologists, among many others, are in charge of developing a specialized treatment that is adapted to the patient’s symptoms and needs.
Unfortunately, these treatments do not completely alleviate the effects of this condition, so the person usually presents a progressive cognitive deterioration, followed by psychomotor problems, decreased hearing and visual abilities, and a whole series of medical complications until the patient’s death.