Generality
Multi-system atrophy (AMS) is a progressive neurodegenerative disease that can damage various areas of the brain and spinal cord.
The precise causes of multi-system atrophy are not yet known. Studies have revealed the presence of abnormal protein clusters, consisting mainly of alpha-synuclein and called Lewy bodies. What remains unsolved is how Lewy bodies cause illness.
Diagnosing multiple system atrophy is not easy at all. For this reason, several tests are needed.
Unfortunately, there is still no specific cure capable of reversing (or at least stopping) the process of neurodegeneration.
What is multi-system atrophy
Multi-system atrophy (AMS) is a disease of the nervous system, characterized by the progressive degeneration - which ends in death - of neurons present in certain areas of the brain and spinal cord.
Typically, this disease acts on three levels, impairing body movements, balance and automatic functions (bladder control and the like).
Meaning of the words atrophy and multi systemic
In medicine, the term atrophy indicates a reduction in the mass of a tissue or organ; this reduction is due to the death or shrinking of the cells that compose it.
In the present case, atrophy refers to the degeneration, culminating in death, of the nerve cells in the brain and medulla.
The word multi-systemic refers to the fact that several areas of the central nervous system are involved (ie the whole of the brain and spinal cord); in particular, the so-called basal ganglia, the cerebellum and the brainstem are involved.
EPIDEMIOLOGY
Multi-system atrophy is a very rare disease. In fact, it has an incidence that is equal to about 5 cases per 100,000 people.
It mainly affects individuals between the ages of 50 and 60, but it can also occur in younger or older individuals, although this is a very uncommon event.
Some statistics report that AMS affects men and women equally, while others have revealed a predisposition to the disease on the part of men (55% in their favor).
According to the latest genetic research, there appears to be no inherited forms of multi-system atrophy.
Causes
The precise causes of multi-system atrophy have not yet been fully elucidated.
According to the hypotheses of the researchers, the progressive degeneration of brain and medullary neurons is due to the accumulation, in aggregates, of a protein called alpha-synuclein.
Always according to the same theories, in fact, these aggregates - called Lewy bodies and located in the cell cytoplasm - would interfere with the release, by the nerve cells, of some neurotransmitters fundamental for the survival and proper functioning of the nerve cells themselves. .
What are Lewy bodies?
Made up of alpha-synuclein (largely) and other proteins (traces), Lewy bodies are rounded masses that form in the cytoplasm of brain neurons of people with Parkinson's disease, Lewy body dementia and precisely multi-system atrophy.
Symptoms and Complications
In fact, it alters the ability to move, the functions coordinated by the cerebellum and the ability to control automatic functions.
MOVEMENT PROBLEMS
The movement problems of people with multi-system atrophy are very reminiscent of the symptoms of Parkinson's disease.
After all, the patients highlight:
- A severe slowing of movements (bradykinesia)
- A growing difficulty in starting to move
- Tremors
- A shuffling step and a "curved gait in the walk."
- Muscle stiffness and tension, so much so that it is difficult to make even the simplest movements
- Painful cramps in stiff muscles
PROBLEMS OF BALANCE, COORDINATION AND LANGUAGE
The involvement of the cerebellum leads to the appearance of balance, coordination and language disorders.
Figure: movement problems, typical of multi-system atrophy and Parkinson's disease
Patients, therefore, have difficulty standing (falls become frequent), walking correctly, performing even the simplest physical activities, and delivering fluent and grammatically correct speech.
Taken together, all of these disorders are grouped under the medical term cerebellar ataxia.
ALTERATIONS OF AUTOMATIC FUNCTIONS
By automatic functions we mean, for example, bladder control, blood pressure control, erection capacity, etc.
Therefore, in the case of multi-system atrophy, the symptoms that distinguish the alterations of automatic functions consist of:
- Urinary incontinence (unwanted urine leakage), urinary retention (the exact opposite of incontinence), needing to urinate frequently and inability to completely empty the bladder.
- Problems with erection in men. These disorders, which are identified with the medical term of erectile dysfunction, consist of the inability to have and / or maintain an erection.
- Orthostatic (or postural) hypotension. It is the clinical condition for which blood pressure undergoes a sharp drop whenever one passes from lying or sitting to standing. In the moments in which this particular phenomenon takes place, those who are the protagonists may suffer from dizziness or feel faint.
- Constipation.
- More or less severe paralysis of the vocal cords.
- Inability to finely regulate body temperature. This inability is due to problems controlling sweating.
- Tendency to snore, abnormal breathing e screeching nocturnal (N.B: nocturnal stridor is a set of abnormal noises that the patient emits during sleep).
- Sleep disturbances, including insomnia, sleep apnea syndrome, and behavior problems during REM sleep.
BEGINNING SYMPTOMS
At the onset of multi-system atrophy, the most frequently encountered signs are slowness in moving, muscle stiffness and difficulty in starting a movement. Statistically, these disorders occur in the early stages of the disease in just over 60% of patients.
Another fairly common sign at the beginning is the difficulty of balance; its presence, in fact, is found in about 22% of cases.
Uncommon, however, is an initial symptomatology characterized by urinary problems (incontinence, need to urinate often, etc.) and erection disorders. In numerical terms, these symptoms occur only in 9 out of 100 patients.
OTHER SIGNS AND SYMPTOMS
In addition to the typical symptoms and signs described above, multi-system atrophy can cause, in some subjects, the appearance of:
- Pain in a shoulder and neck
- Cold hands and feet
- Muscle weakness localized in the extremities of the limbs
- Uncontrolled cries and / or laughter
- Faint voice
- Problems with swallowing
- Blurred vision
- Depression
Diagnosis
Diagnosing multiple system atrophy is somewhat complex, for at least two reasons.
First, there is no specific test capable of defining with certainty the presence of the disease on living patients.
Second, multi-system atrophy resembles other diseases - notably Parkinson's disease and Lewy body dementia - so it can be mistaken for one of them.
SCHEDULED DIAGNOSTIC EXAMINATIONS
When faced with a suspected case of multiple system atrophy, the doctor orders the following diagnostic tests:
- Thorough physical examination, during which symptoms are assessed in detail. It can be particularly significant.
- Analysis of the patient's clinical history. It means going back to when the first symptoms appeared, investigating the pathologies suffered by the patient in the past, clarifying whether he is taking particular drugs, etc.
- Neurological examination, for the evaluation of tendon reflexes, motor skills (balance, coordination, etc.) and sensory abilities.
- Cognitive assessment. It is in fact an "analysis of the mental and intellectual abilities (reasoning, judgment, language) of the patient. It is particularly useful if the doctor has doubts that it may be Lewy body dementia.
- Laboratory tests (blood, urine tests, etc.). They are mainly used to exclude pathologies with symptoms similar to multi-systemic atrophy and which present with anomalies that can be found through a blood test or a urine test (for example a vitamin deficiency).
- Diagnostic imaging tests, such as nuclear magnetic resonance and CT scan of the brain. They allow us to understand if there is a process of neurodegeneration in the brain.
INDICATIONS FOR A CORRECT DIAGNOSIS
Among those proposed, the accurate study of the symptoms (therefore the "physical examination) is probably one of the most important tests for a correct diagnosis.
In fact, observing that the patient, in addition to the classic symptoms of Parkinson's, also suffers from orthostatic hypotension and / or urinary problems is quite significant, because the latter are two typical disorders of multi-systemic atrophy.
Treatment
Unfortunately, at the present time, multi-system atrophy can only be treated in terms of symptoms (symptomatic therapy).
In fact, there is still no specific cure capable of curing the disease, much less of stopping its inexorable progression.
SYMPTOMATIC THERAPIES: DRUGS
Medicines prescribed to patients with multiple systemic atrophy include: medicines for the treatment of orthostatic hypotension (such as fludrocortisone or midodrine), medicines for constipation and medicines for urinary incontinence.
Studies conducted on levodopa and its effects on the symptoms of the disease have given negative results.
In fact, unlike what happens for several subjects suffering from Parkinson's disease, levodopa administered to patients with multiple systemic atrophy has proved to be completely ineffective.
SUPPORTING SYMPTOMATIC THERAPIES
Supportive symptomatic therapies, provided in case of multi systemic atrophy, are:
- Physiotherapy. It is used to improve motor disorders and balance problems, and to prevent muscle contractions (which are very frequent).
- Occupational therapy. Its main objective is to make the patient as independent as possible from others and to re-insert him into a social context.
- Language therapy. It serves to relieve speech disorders (which affect communication skills) and to improve the ability to swallow food (which could cause choking).
Occupational therapy and home furnishings
Occupational therapy experts advise relatives of individuals with multiple system atrophy to change the decor of the home they live in and to create a home environment with minimal fall risk.
Therefore, it is a good idea to remove old loose carpets and add bars or handrails where sufferers can lean on.
Prognosis
Since the disease begins, most individuals with multiple system atrophy survive for about another 6-9 years.
