Multiple system atrophy (MSA) is a neurodegenerative disorder primarily characterized by autonomic failure plus parkinsonism or cerebellar ataxia. The diagnosis may be challenging and is usually made at a tertiary care center. The long-term management issues are equally challenging and frequently require collaboration with the patient's local care providers. Whereas there is currently no cure for MSA, treatment focuses on the most problematic symptoms experienced by the patient. Autonomic symptoms may include severe orthostatic hypotension with syncope, urinary symptoms culminating in incontinence, constipation, anhidrosis, and erectile dysfunction. Motor symptoms include parkinsonism, cerebellar ataxia, and falls. Although certain motor symptoms may respond partially to medications, some of these medications may exacerbate autonomic problems. In this manuscript, we seek to bridge the gap between tertiary care providers and the patient's local care providers to provide multidisciplinary care to the MSA patient. Patients are often best served by management of their chronic and evolving complex problems with a team approach involving their primary care providers and subspecialists. Treatment guidelines typically list myriad therapeutic options without clarifying the most efficacious and simplest treatment strategies. Herein, we provide a guideline based on what has worked in our MSA clinic, a clinic designed to provide care throughout the disease course with subspecialty integration with the goal of empowering a partnership with the patient's home primary care providers.
Multiple system atrophy (MSA) is a sporadic and progressive neurodegenerative disorder with onset between 40 and 80 years of age. (1-4) Early in the disease, the diagnosis is often elusive and mistaken for Parkinson disease or a spinocerebellar syndrome. MSA is typically suspected once the associated autonomic symptoms, including orthostatic hypotension (OH) and urinary incontinence, become prominent. The current consensus criteria have levels of diagnostic certainty; possible MSA requires at least one feature of autonomic dysfunction in addition to the motor syndrome, whereas probable MSA requires urinary incontinence/urinary retention or OH (Table 1). (5)
Presentations of MSA are diverse, and different names have been applied to the component phenotypes in past decades. Thus, when the primary focus was cerebellar, it was termed olivopontocerebellar atrophy (6); the parkinsonian phenotype was categorized as striatonigral degeneration (7); whereas Shy-Drager syndrome (8) became synonymous with prominent neurodegenerative autonomic failure. These were ultimately recognized to represent the same disorder, (9) with oligodendroglial inclusions containing [alpha]-synuclein immunohistochemistry common to all phenotypes. (10)
In the current era, MSA is recognized as a well-circumscribed disorder that is diagnosed when parkinsonism or cerebellar ataxia is manifested with prominent autonomic failure (especially OH). It is often accompanied if not preceded by REM sleep behavior disorder. (11) Clues to MSA include incomplete levodopa responses among those with parkinsonism; comorbid ataxia and parkinsonism; frequent falls; and clinical evidence of brainstem dysfunction, such as nocturnal stridor, severe dysarthria, and dysphonia (Table 1). (12) Unlike in other neurodegenerative syndromes, dementia is uncommon. Although mild cognitive impairment may occur, especially later in disease, (13) moderate to severe intellectual deterioration has been noted in only 2.5% of a large series. (4)