Multisystem atrophy is a neurological disorder that falls into the category of atypical Parkinson’s syndromes. The atypical Parkinson’s syndromes often have similar symptoms to the relatively well-known Parkinson’s disease, but are often more rapidly progressive, have a symmetrical distribution of symptoms already at the onset of the disease, respond more poorly to the Parkinson’s drug L-dopa, and differ from “orginial” Parkinson’s on the basis of several other abnormalities. The distinction is often difficult and definitely a case for a neurological specialist. Nevertheless, here is a brief overview of MSA.
What is multisystem atrophy?
Multisystem atrophy (MSA) refers to a sporadic neurodegenerative disease of middle adulthood characterized by the combination of autonomic nervous system dysfunction (see below) with Parkinsonian symptomatology or cerebellar ataxia. The term MSA is now used to refer to a number of disorders that have been known for some time and were originally thought to be separate diseases: Shy-Drager syndrome, sporadic olivo-ponto-cerebellar atrophy and striatonigral degeneration, which is the most common manifestation form with pronounced autonomic disturbances and extrapyramidal disorders. MSA affects about 4 out of 100,000 people. Parkinson’s disease is thus about 50 times more common.
Causes
The etiology, i.e., the mechanism of development of multisystem atrophy is unknown, and the field of research is very complex, even for experts. Atypical Parkinson’s syndromes are classified primarily according to neuropathologic findings, that is, according to certain criteria that can be detected only under the microscope (and thus often only after the death of the affected person). The characteristic finding in the case of MSA is the detection of alpha-synuclein-positive inclusion bodies in the oligodendrocytes of the brain. This is a protein that is deposited in these “support cells” of the brain without knowing the exact reason or origin. Like Parkinson’s disease and Lewy body dementia, MSA is therefore classified as a synucleinopathy. One also observes a demise of nerve cells in different areas of the brain, which eventually causes the symptomatology and progresses rapidly. The degeneration in the substantia nigra is typical for Parkinson’s disease and therefore causes Parkinson’s-like symptoms. At the same time, however, in MSA, dopamine receptor-containing tissue also dies in the striatum and causes the non-response to dopamine as a drug, which in turn distinguishes MSA from Parkinson’s disease. Death of nerve tissue in the cerebellum as well as in the pons is responsible for cerebellar ataxia. Meanwhile, death of nerve tissue in the spinal cord is thought to be responsible for autonomic nervous system dysfunction.
Symptoms, complaints, and signs
Multisystem atrophy is characterized by a variety of neurological and physical symptoms. Over time, the symptoms become progressively more severe. After about three to five years, the ability to walk is lost. Death usually occurs after eight to ten years. There are two possible courses of the disease. In one, the so-called Parkinson’s symptoms predominate. The other disease course shows mainly cerebellar symptoms. In the case of Parkinsonism, the symptoms of tremor (trembling), muscle rigidity (rigor) and slowing of movements (bradykinesia) predominate. In the case of cerebellar forms of progression, mainly coordination disorders of movement (stance and gait ataxia) with constant risk of falling, pathological sleepiness (nystagmus) and disorders of voluntary movements (dysmetria) are observed. These symptoms may be joined by dysphagia, speech disorders, constant fluctuations in blood pressure to low blood pressure, erectile dysfunction and urinary incontinence. Dementia often develops as well. In addition, pyramidal tract signs also occur, manifested by increased reflex readiness or by a positive Babinski reflex. In the Babinski reflex, the big toe moves outward when brushing the sole of the foot, in contrast to the normal reflex. However, not all symptoms need to be present with the condition. Symptomatology is highly dependent on which systems are affected. Life expectancy is significantly reduced due to complications such as aspiration pneumonia in cases of dysphagia or severe respiratory disturbances.Especially for cerebellar multisystem atrophy, therapy is not possible. Overall, multisystem atrophy currently has no cure.
Diagnosis and progression
Multisystem atrophy is clinically notable for the combination of autonomic disturbances with parkinsonian symptoms or cerebellar ataxia. Autonomic disorders include those of the autonomic nervous system, that part of our nervous system that regulates physical processes of daily living without our voluntary control and influence: Blood pressure regulation disorders, bladder emptying disorders, sleep, speech and swallowing disorders can occur within this framework. The swallowing disorders in particular can quickly become dangerous if food residues enter the lower respiratory tract due to a malfunction and trigger pneumonia there – such aspiration pneumonias are a frequent cause of death in MSA patients. Parkinsonian symptomatology is defined by the medical community as the combination of rigor, tremor, and akinesia. The symptom rigor describes a muscular increase in tone up to a voluntarily unbreakable muscular rigidity, a tremor is a fine-beat muscle tremor (e.g. of the hands), akinesia (or somewhat less pronounced: hypokinesia) describes a lack of movement, which is caused by a lack of drive in the brain. Overall, there is an impoverishment of facial expressions and gestures, a stooped posture, a slowing of reactions and therefore a tendency to fall forward, as well as the typical small-step gait of the Parkinson’s patient. Cerebellar ataxia can also occur in MSA and describes a disorder of movement and postural coordination, which has its cause in the cerebellum. This can lead, for example, to a tendency to fall when walking or standing. The basic pillars of diagnosis are anamnesis and clinical examination. Here, a Parkinson’s syndrome can be quickly concluded on the basis of the rough description as well as the appearance that is also visible to the physician. The exact diagnosis within the Parkinson syndromes, however, is often difficult even for the specialist. The autonomic regulation disorders are always obligatory for MSA, everything else can be added, but does not always have to be. Some features such as swallowing and speech disorders, an early tendency to fall and rapid disease progression are more suggestive of MSA – but especially the non-response to L-dopa as a drug often helps the physician only in the differentiation from “normal” PD. In difficult cases, imaging by CT, MRI, or IBZM-SPECT can help further and detect atrophic brain regions (CT, MRI) or the absence of dopamine receptors (SPECT).
Complications
Multisystem atrophy causes symptoms resembling Parkinson’s disease in most cases. These complaints can thereby lead to considerable restrictions and complications in the patient’s everyday life, so that the patient is dependent on the help of other people. Paralysis and disturbances in sensitivity occur, which can also lead to movement restrictions. The patients suffer from concentration disorders and also motor disorders. Furthermore, patients often also find it difficult to speak and have difficulty swallowing. These can lead to problems with the intake of fluids and food, so that those affected suffer from deficiency symptoms or dehydration. Furthermore, tension and muscle weakness occur. Sufferers often tremble and suffer from inner restlessness or depression. The patient’s quality of life is significantly reduced and limited by multisystem atrophy. It is also not uncommon for inflammation to occur in the lungs, which in the worst case can lead to the death of the patient. A direct and causal treatment of this disease is usually not possible. However, the symptoms can be limited by various therapies and with the help of medications. In most cases, multisystem atrophy reduces the patient’s life expectancy.
When should you see a doctor?
Gait unsteadiness and impaired mobility are signs of impaired health that should be evaluated by a physician. If there is weakness in physical performance, low resilience, and a decrease in range of motion, a doctor is needed. If the affected person suffers from trembling limbs, an inner restlessness or disorders of voluntary movement, a doctor must be consulted.Often, patients with multisystem atrophy are no longer able to safely and stably reach their intended destinations during locomotion. If everyday obligations can no longer be performed, the general risk of accidents and falls increases and injuries occur frequently, a doctor must be consulted. If the usual sporting activities can no longer be carried out, if there is a restriction of the daily routine or if vegetative complaints arise, the affected person needs help and support. In case of incontinence, changes in memory, disturbances of the swallowing act as well as problems with phonation, a visit to the doctor should be made. Irregularities of the heart rhythm, confusion, orientation problems, behavioral abnormalities as well as a decreased sense of well-being are complaints that should be presented to a physician. A diffuse feeling of illness, social withdrawal or visual changes due to weight fluctuations are indications of the organism that should be clarified. Since the disease has a progressive course, a physician should be consulted at the first discrepancies.
Treatment and therapy
Treatment of multisystem atrophy is always multi-pronged and usually difficult. Only one-third of patients respond to L-dopa therapy, which is usually used in Parkinson’s disease, and usually only for a limited period of time. Amantadine is a drug which can help alternatively against the movement disorders. The autonomic disturbances must be treated symptomatically with ample fluid intake or blood pressure medication against the usually rather low blood pressure, bladder voiding disturbances are intercepted either with inserts or with disposable catheterization, in more severe cases of incontinence medication can also be tried. Concomitant depression should be treated with medication as early as possible. To alleviate suffering (palliation), the insertion of a feeding tube or ventilation with a mask is often helpful and necessary in advanced stages. Specific therapy using immunoglobulins is currently being investigated.
Outlook and prognosis
The prognosis in multisystem atrophy is very poor. Correspondingly, it affects both quality of life and life expectancy. The disease progresses rapidly. Three to five years after a diagnosis, patients suffer from severe balance problems. The ability to walk is limited or no longer present. The first sufferers regularly die from the eighth year of symptoms. Science has not yet produced an effective remedy to effectively combat multisystem atrophy. Only the symptoms can be alleviated so that sufferers do not have to endure pain. People in the advanced stages of life have the greatest risk of developing multisystem atrophy. Most patients are just before the age of 60 when they are diagnosed. Statistically, ten cases per 100,000 inhabitants have been documented. According to the current status, the risk is the same for men and women. Familiar everyday life is no longer possible due to the typical signs. Those affected increasingly need help in their daily lives. Last but not least, the diagnosis also leads to retirement. Many patients and their relatives complain of psychological stress resulting from the untreatable multisystem atrophy.
Prevention
Prevention of multisystem atrophy is not possible according to current scientific knowledge.
Follow-up care
In most cases of multisystem atrophy, only very few and sometimes very limited aftercare measures are available to the affected person. For this reason, the affected person should see a physician at an early stage to prevent the occurrence of other complications or complaints. Self-cure is not possible, so the early diagnosis of the disease is of primary importance. As a rule, those affected by multisystem atrophy are dependent on taking various medications that can alleviate the symptoms. In any case, the affected person should follow all the doctor’s instructions and also pay attention to the correct dosage and regular intake of the medication. If there are any uncertainties or questions, it is advisable to consult a doctor first. Likewise, many of the patients are dependent on the help and care of other people in their everyday lives due to multisystem atrophy, whereby care by one’s own family in particular can have a positive effect on the course of the disease.Further aftercare measures are usually not available to the affected person. The further course of the disease is highly dependent on the cause, so that no general prediction can be made in this regard.
What you can do yourself
Everyday care and self-help for patients with multisystem atrophy primarily addresses the symptoms and is based on what exact complaints are present. In the case of low blood pressure, support stockings and a resting position with the head elevated a little are suitable. In this way, the blood circulation is relieved. In addition, an increased intake of fluids and a diet somewhat richer in salt are recommended. If there are problems with the swallowing muscles, the diet should be adjusted accordingly. Dry, chewy food should be avoided. To delay the loss of motor skills as much as possible, regular physiotherapeutic exercises are an approach worth mentioning. Both fine and gross motor skills should be considered. A positive side effect of these exercises is also on blood pressure. The same is recommended for the speech muscles. Regular exercise can prevent rapid loss of speech. Patients should also be careful not to isolate themselves from their environment despite the disease and its associated symptoms. On the one hand, the exercises already mentioned, especially the speech-related ones, can be better tried out in everyday life, and on the other hand, possible psychological effects are thus mitigated.
