Multiple system atrophy
Multiple system atrophy is a progressive, complex brain disorder that impairs movement, balance, and the autonomic nervous system.
Overview
Multiple system atrophy (MSA) is a progressive disorder that disrupts the autonomic nervous system—which controls involuntary functions like blood pressure—and affects movement and balance. Symptoms typically appear around age 55, and the condition worsens over time, with an average survival of 10 years after symptom onset.
Types and Symptoms
There are two major types of MSA, distinguished by the predominant symptoms at diagnosis:
- MSA-P (Parkinsonian type): Characterized by parkinsonism, including unusually slow movement (bradykinesia), muscle rigidity, tremors, and postural instability.
- MSA-C (Cerebellar type): Characterized by cerebellar ataxia, which causes problems with coordination and balance, speech difficulties (dysarthria), and impaired eye movement control.
Common autonomic symptoms include a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men.
Causes
MSA is a complex condition likely resulting from the interaction of genetic, environmental, and lifestyle factors. A hallmark of the disease is the accumulation of clumps of abnormal alpha-synuclein protein (known as inclusions) in the brain and spinal cord, which damage cells controlling movement and autonomic function.
- Genetic factors: Variants in the SNCA gene (associated with risk in European populations) and the COQ2 gene (associated with risk in Japanese populations) are being studied.
- Environmental factors: While exposure to solvents or certain toxins has been investigated, these associations remain unconfirmed.
Inheritance
Most cases of multiple system atrophy are sporadic, meaning they occur in individuals with no family history of the disorder. It rarely runs in families and does not follow a clear pattern of inheritance.
