Multiple system atrophy, or MSA for short, is a rare neurodegenerative disease characterized by a continuous loss of nerve cells in certain areas of the brain. Despite intensive research, the causes of nerve cell loss are still unknown. MSA affects both women and men with an average onset between the fifth and sixth decades of life and a prevalence of approximately two to five per 100,000 inhabitants in Germany.

SYMPTOMS

THE DIAGNOSIS OF MSA DOES NOT MEAN THAT AFFECTED INDIVIDUALS WILL DEVELOP ALL OF THESE SYMPTOMS.

MSA can present with a variety of clinical pictures, so that it is often difficult to distinguish it from other neurodegenerative diseases, such as (idiopathic) Parkinson's syndrome - classic Parkinson's disease, progressive supranuclear gaze palsy (PSP) or corticobasal degeneration (CBD), especially in its early stages. Unlike (idiopathic) Parkinson's syndrome, the leading symptoms usually occur relatively symmetrically on the body and progress more rapidly. Typically, patients have some of the following symptoms, even in combination; rarely do all symptoms occur in a patient.

There are two variants of MSA:

• and MSA-C with a dysfunction of the cerebellum with increasing balance disorders, uncoordinated movements (ataxia) affecting posture, walking, standing and movement of the extremities, accompanied by speech and swallowing difficulties.
• MSA-P, with predominantly Parkinson's-like symptoms manifested by slowing of movement (bradykinesia) and stiffness of the muscles (rigidity).

In addition, other symptoms may occur in both variants:

• Dysfunction of the autonomic nervous system, manifested, for example, by a disturbance of bladder function, erectile function, intestinal motility, or regulation of blood pressure and body temperature. Accordingly, affected persons may report difficulties in urinating, impotence, constipation, reduced sweating or so-called orthostatic hypotension. This is characterized by a marked drop in blood pressure when standing up, which can lead to dizziness, fatigue, blurred vision and head or neck pain, and occasionally fainting. 
• a so-called REM sleep behavior disorder. Affected individuals report very vivid and sometimes aggressive dreams. Relatives observe that these dreams are acted out in the form of complex and purposeful movements due to a lack of loss of tone of the muscles during sleep. These symptoms can vary greatly from person to person.
• involuntary tensions of the facial or trunk flexor muscles, as well as malpositions of the trunk, hands or feet.

DIAGNOSIS

The diagnosis is made on the basis of a detailed history, a physical examination, and by means of special additional test procedures:

• Levodopa test: low response to levodopa.
• Brain imaging (MRI): typical for MSA are reductions in volume (atrophies) in certain brain regions (putamen, middle cerebellar peduncle, pons or cerebellum)
• Functional tests of the autonomic nervous system: measurement of orthostatic blood pressure drop after standing for three minutes (Schellong test)
• Urological examination (this is mainly to exclude other causes of erectile dysfunction or urinary incontinence).

Since MSA is often difficult to distinguish from other neurodegenerative diseases, especially in its initial phase, further examinations may also be necessary, for example:

• Positron emission tomography (PET) or single photon emission computed tomography (SPECT): here the doctor administers a weakly radioactively labeled agent to the patient, and images are taken of its distribution in the body
• Examination in the sleep laboratory for reliable diagnosis of REM sleep behavior disorder
• Examination of eye movements

THERAPY

Unfortunately, no therapy is yet available that can slow or stop the progression of the disorder. Only the symptoms can be partially alleviated by various medications and therapies.

• For example, about 80% of patients with MSA-P show an initial improvement of slowed movements and gait unsteadiness by using a therapy with levodopa. The effect is usually transient.

• Cerebellar ataxia (coordination difficulties, tremors during purposeful movements of the extremities, gait unsteadiness, slurred speech) is difficult to control with medication.

Other therapies:

Regular speech therapy (speech and swallowing therapy) and regular physical therapy can help stabilize speech and movement skills. These measures are intended to maintain as much independence as possible, achieve fall prevention, and delay increasing immobility.

For example, orthostatic hypotension can be alleviated with the following measures: high-salt diet, raising the head of the bed at night, elastic support stockings.

Most patients who develop MSA have a prognosis with an average survival rate of 3-10 years after disease onset, although patients with much longer disease duration have been reported.

Professor Dr. med. Johannes Levin and Alexander Bernhardt,
Neurology Department,
Outpatient clinic for neurodegenerative diseases
Ludwig-Maximilians-Universität München, Klinikum der Universität - Großhadern

Leben mit MSA: A blog of two MSA Patients about their daily life with Multiple System Atrophy