Generality
Multi-systemic atrophy ( AMS ) is a progressive neurodegenerative disease, which can damage various areas of the brain and spinal cord.
The precise causes of multi-system atrophy are not yet known. Studies in this regard have revealed the presence of anomalous protein clusters, consisting mainly of alpha-synuclein and called Lewy bodies. What remains unsolved is how Lewy bodies cause illness.
Diagnosing multi-system atrophy is not easy at all. For this reason, several tests are required.
Unfortunately, even today there is no specific cure, capable of reversing (or at least arresting) the neurodegeneration process.
What is multi systemic atrophy
Multi-systemic atrophy ( AMS ) is a disease of the nervous system, characterized by progressive degeneration - which ends with death - of neurons present in some areas of the brain and spinal cord.
Generally, this disease acts on three levels, compromising 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 the diminution of the cells that compose it.
In the case in question, atrophy refers to degeneration, culminating in death, of brain and marrow nerve cells.
The word multi-system refers to the fact that more areas of the central nervous system are involved (ie the set of brain and spinal cord); in particular the so-called basal ganglia, the cerebellum and the brainstem are affected.
Epidemiology
Multi systemic 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 can also occur in younger or older subjects, although this is a very unusual event.
Some statistics show that AMS affects men and women equally; others, on the other hand, revealed a predisposition to the disease by male persons (55% in their favor).
According to the latest genetic research, it seems that there are no hereditary forms of multi systemic atrophy.
Causes
The precise causes of multi systemic atrophy have not yet been fully clarified.
According to the researchers' hypotheses, the progressive degeneration of encephalic and medullary neurons would be due to the accumulation, in aggregates, of a protein called alpha-synuclein .
Still on the basis of 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 same nerve cells .
What are Lewy bodies?
Consisting of alpha-synuclein (in large part) and other proteins (traces), Lewy bodies are round-shaped masses that form in the cytoplasm of brain neurons of people with Parkinson's disease, dementia with Lewy bodies and precisely multi-systemic atrophy.
Symptoms and Complications
Indeed, it alters the ability to move, the functions coordinated by the cerebellum and the ability to control automatic functions.
PROBLEMS OF MOVEMENT
The movement problems of people with multi systemic atrophy are very reminiscent of the symptoms of Parkinson's disease.
After all, patients highlight:
- A strong slowing of movements ( bradykinesia )
- An increasing difficulty in starting to move
- Tremors
- A shuffling step and a curved gait in the walk
- Stiffness and muscle tension, so much so that it is difficult to perform even the simplest movements
- Painful cramps in stiff muscles
PROBLEMS OF BALANCE, COORDINAIZONE AND LANGUAGE
The involvement of the cerebellum leads to the appearance of disturbances of balance, coordination and language.
Figure: movement problems, typical of multi-system atrophy and Parkinson's disease
Therefore, patients have difficulty standing (falls become frequent), walking correctly, performing even the simplest physical activities and formulating fluent and grammatically correct speeches.
Taken together, all these disorders are grouped together in the medical term cerebellar ataxia .
ALTERATIONS OF THE AUTOMATIC FUNCTIONS
Automatic functions include, for example, bladder control, blood pressure control, erection capacity, etc.
Therefore, in the case of multi systemic atrophy, the symptoms that characterize the alterations of the automatic functions consist of:
- Urinary incontinence (unwanted urine leakage), urinary retention (exact opposite of incontinence), need to urinate frequently and inability to completely empty the bladder.
- Erection problems in male subjects. These disorders, which are identified with the medical term erectile dysfunction, consist in the inability to have and / or maintain an erection.
- Orthostatic (or postural) hypotension . It is the clinical condition whereby the arterial pressure falls sharply every time one passes from the lying or sitting position to the erect one. In the moments in which this particular phenomenon takes place, the protagonist can suffer from vertigo or feel faint.
- Constipation .
- More or less severe paralysis of the vocal cords .
- Inability to finely adjust body temperature . This inability is due to sweat control problems.
- Tendency to snore, abnormal breathing and nocturnal stridor (NB: the nocturnal stridor is a set of anomalous noises that the patient emits during sleep).
- Sleep disorders, including insomnia, sleep apnea syndrome and behavioral problems during the REM phase.
SYMPTOMS AT THE BEGINNINGS
At the beginning of the multi-system atrophy, the most frequent signs are slowness in movement, muscle stiffness and difficulties in initiating movement. From a statistical point of view, 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, on the other hand, is an initial symptomatology characterized by urinary problems (incontinence, need to urinate often, etc.) and erection disorders. In numerical terms, these symptoms occur in only 9 out of 100 patients.
OTHER SIGNS AND SYMPTOMS
In addition to the typical symptoms and signs described above, multi-system atrophy may cause, in some subjects, the appearance of:
- Pain in a shoulder and neck
- Cold hands and feet
- Local muscle weakness at the extremities of the limbs
- Uncontrolled plants and / or laughter
- Dim voice
- Swallowing problems
- Blurred vision
- Depression
Diagnosis
Diagnosing multi-system atrophy is quite complex, for at least two reasons.
First, there is no specific test capable of defining with certainty the presence of the disease in living patients.
Secondly, multi systemic atrophy resembles other pathologies - in particular Parkinson's disease and Lewy body dementia - therefore it can be mistaken for one of these.
EXPECTED DIAGNOSTIC EXAMS
Faced with a suspected case of multi systemic atrophy, the doctor has the following diagnostic tests:
- Accurate physical examination, during which the symptomatology is evaluated in detail. It can be particularly significant.
- Analysis of the patient's clinical history . It means to go back to when the first symptoms appeared, to investigate the pathologies suffered in the past by the patient, to clarify if he is taking particular drugs etc.
- Neurological examination, for the evaluation of tendon reflexes, motor skills (balance, coordination, etc.) and sensory abilities.
- Cognitive evaluation . 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 the doubt that it may be dementia with Lewy bodies.
- Laboratory tests (blood tests, urine tests, etc.). They are used above all to exclude pathologies with symptoms similar to multi-systemic atrophy and which occur with abnormalities that can be detected by a blood test or urine test (for example a vitamin deficiency).
- Diagnostic imaging tests, such as nuclear magnetic resonance and the brain CT scan. They allow to understand if a process of neurodegeneration in the brain is going on.
INDICATIONS FOR A CORRECT DIAGNOSIS
Among the proposed ones, the careful study of the symptomatology (therefore the physical examination) is probably one of the most important tests for the purposes of a correct diagnosis.
In fact, to observe that the patient, in addition to the classic symptoms of Parkinson, also suffers from orthostatic hypotension and / or urinary problems is quite significant, because the latter are two typical disorders of the multi systemic atrophy.
Treatment
Unfortunately, at the present time, multi-system atrophy can only be treated from the point of view of symptoms ( symptomatic therapy ).
In fact, there is still no specific cure capable of curing the disease, let alone halting its inexorable progression.
SYMPTOMATIC THERAPIES: DRUGS
Among the drugs prescribed to patients with multi systemic atrophy, we mention: medicines for the treatment of orthostatic hypotension (such as fludrocortisone or midodrine), medicines for constipation and medicines for urinary incontinence .
Studies on levodopa and its effects on the symptoms of the disease have given negative results.
In fact, unlike what happens for different subjects suffering from Parkinson's disease, levodopa administered to patients with multi systemic atrophy has proved to be completely ineffective .
SYMPTOMS SUPPORTING THERAPIES
The symptomatic supportive therapies, foreseen 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 in a social context.
- Language therapy . It is used to alleviate speech disorders (which have an impact on communication skills) and to improve the ability to swallow food (which could cause suffocation).
Occupational therapy and home furnishings
Occupational therapy experts advise relatives of individuals with multisystem atrophy to change the decor of the home in which they live and to create a home environment with minimal fall risk.
Therefore, it is good practice to remove the old loose carpets and add bars or handrails where the sick can lean.
Prognosis
Since the onset of the disease, most individuals with multi-system atrophy survive for about another 6-9 years
