From the Guidelines
Multiple system atrophy (MSA) is a rare, progressive neurodegenerative disorder characterized by the accumulation of abnormal alpha-synuclein protein in glial cells, leading to a combination of parkinsonian, cerebellar, and autonomic symptoms, with a typical onset between 55 to 65 years of age and a mean disease duration of almost 6 years 1. Key aspects of MSA include:
- A synucleinopathy with neuronal deposits of alpha-synuclein and ubiquitin, distinct from tauopathies like corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) 1
- Three distinct clinical subtypes: MSA-P (striatonigral degeneration), MSA-C (olivopontocerebellar atrophy), and MSA-A (Shy-Drager syndrome), with the majority of cases exhibiting parkinsonian symptoms at some stage of the disease 1
- Common symptoms include cerebellar ataxia, pyramidal signs, and dysautonomia, such as urinary incontinence, in addition to parkinsonian features like bradykinesia and rigidity 1
- A more rapid progression than Parkinson's disease, with an average life expectancy of 6-10 years from diagnosis, emphasizing the need for early recognition and management of symptoms to improve quality of life 1 The diagnosis of MSA can be challenging, and imaging remains an essential diagnostic tool in the evaluation of patients presenting with parkinsonian symptoms, as clinical features alone may not be sufficient for a definitive diagnosis 1. Given the complexity and progressive nature of MSA, a multidisciplinary approach involving neurologists, physical therapists, speech therapists, and other specialists is crucial for comprehensive care and to improve morbidity, mortality, and quality of life outcomes 1.
From the Research
Definition and Characteristics of Multiple System Atrophy (MSA)
- Multiple System Atrophy (MSA) is a sporadic neurodegenerative disease of undetermined aetiology, presenting with parkinsonian, autonomic, cerebellar, and pyramidal signs 2.
- MSA is a neurodegenerative disorder primarily characterized by autonomic failure plus parkinsonism or cerebellar ataxia 3.
- It is pathologically characterized by oligodendroglial cytoplasmic inclusions containing abnormally aggregated α-synuclein 4.
Clinical Presentation and Symptoms
- The clinical presentation of MSA is highly variable, with parkinsonism, cerebellar ataxia, and autonomic failure being the most common symptoms 5.
- Autonomic symptoms may include severe orthostatic hypotension with syncope, urinary symptoms culminating in incontinence, constipation, anhidrosis, and erectile dysfunction 3.
- Motor symptoms include parkinsonism, cerebellar ataxia, and falls 3.
Treatment and Management
- Despite the lack of any effective therapy to reverse MSA, some of the symptoms may be improved with adequate symptomatic therapies 2.
- Medical treatment is largely aimed at mitigating the parkinsonian and autonomic features 2.
- Treatment guidelines typically list myriad therapeutic options without clarifying the most efficacious and simplest treatment strategies 3.
- A coordinated multidisciplinary approach driven by the patient's priorities and goals of care is recommended for the management of MSA 6.