Multiple System Atrophy

Multiple System Atrophy (MSA) is a rare neurodegenerative disorder that affects movement and the autonomic nervous system, which controls involuntary processes like blood pressure and digestion. It involves the progressive loss of neurons in brain areas such as the basal ganglia, cerebellum, and inferior olivary nucleus, driven by abnormal alpha-synuclein protein accumulation.^[1]

MSA affects about 5 per 100,000 people, typically starting between ages 50-60, with a slight male predominance (1.3:1).^[1] Unlike Parkinson’s disease, MSA responds poorly to dopamine treatments, distinguishing it despite overlapping symptoms.^[2]

Progression

The disease often begins with an akinetic-rigid syndrome (62% of cases), balance issues (22%), or genitourinary symptoms (9%), such as erectile dysfunction in men or reduced genital sensitivity in women.^[5] Falls are common within the first year for 20% of patients. As MSA progresses, symptoms worsen, leading to severe disability within 6-10 years, with most requiring a wheelchair within five years of motor symptom onset.^[1]

Diagnosis

MSA is diagnosed clinically using criteria updated in 2007,^[5] often challenging due to overlap with Parkinson’s. Imaging (MRI/CT) may show cerebellar or putamen changes, like the "hot cross bun" sign in MSA-C, though these aren’t always present early. Definitive diagnosis requires autopsy, revealing alpha-synuclein-rich glial cytoplasmic inclusions (Papp-Lantos bodies).^[6]

Management

No cure exists, but management includes levodopa (effective in ~1.5% of cases),^[7] fludrocortisone or midodrine for hypotension,^[8] and rehabilitation (physiotherapy, speech therapy) to aid mobility and swallowing.^[3] Non-drug strategies like head-up tilt sleeping and compression stockings help with blood pressure control.

Prognosis

Life expectancy averages 6-10 years post-symptom onset, with few surviving beyond 12 years.^[1] Common causes of death include infections (e.g., pneumonia) and sudden death.^[9]