Definition and Overview
Multiple system atrophy (MSA) is a neurodegenerative disease in which the cerebellum, basal ganglia, autonomic nervous system, and corticospinal tract are simultaneously progressively damaged.
The prevalence rate is approximately 4.4 per 100,000 people, making it a rare disease. It mainly occurs in people in their late 50s, and the frequency of occurrence is similar for men and women. It is classified as alpha-synucleinopathy along with Parkinson's disease and Lewy body dementia.
It is divided into two subtypes according to clinical features. - MSA-P type: Parkinson's symptom predominant type (rigidity, bradykinesia, postural instability) - MSA-C type: Predominant cerebellar symptom type (gait ataxia, limb ataxia, dysarthria)
Autonomic dysfunction is characteristic in both subtypes.
Causes and Pathophysiology
A characteristic neuropathological finding of multiple system atrophy is the accumulation of alpha-synuclein inclusions (GCI) in the cytoplasm of oligodendrocytes. As these inclusion bodies form extensively in the cerebellum, striatum, substantia nigra, and autonomic nerve-related nuclei, neuronal loss and gliosis progress.
The cause has not yet been clearly identified, and to date, no familial form clearly linked to a specific genetic mutation has been established. It is assumed that the interaction between environmental factors and genetic vulnerability is involved.
symptoms
autonomic dysfunction
The early and prominent appearance of autonomic symptoms in multiple system atrophy is an important differentiator from Parkinson's disease.
- Orthostatic hypotension: When standing up, blood pressure drops significantly, increasing the risk of dizziness, fainting, and falling.
- Bladder dysfunction: frequent urination, urinary urgency, feeling of residual urine, urinary incontinence, urinary retention.
- Erectile Dysfunction: Often appears early in male patients
- Sweating disorders: anhidrosis or hyperhidrosis
motor symptoms
- Type MSA-P: Rigidity, bradykinesia, postural instability, and gait disturbance. Resting tremor is less characteristic than in Parkinson's disease
- MSA-C type: gait ataxia, limb ataxia, dysarthria, oculomotor abnormalities (slow eye tracking, gaze-evoked nystagmus)
Other symptoms
- REM sleep behavior disorder: A condition that causes dreams to be acted upon during sleep; may appear early.
- Dysarthria and dysphagia (if advanced)
- Inspiratory vocal cord stenosis (laryngeal stridor): Nocturnal wheezing that is relatively specific to multiple system atrophy
diagnosis
The diagnosis is a clinical diagnosis based on the MSA clinical diagnosis criteria revised in 2022.
Brain MRI is an important auxiliary diagnosis. - MSA-P type: putaminal rim sign (high signal intensity outside the putamen) on T2-weighted images - MSA-C type: Atrophy of the cerebellum and middle cerebellar peduncle, hot cross bun sign of the pons on T2-weighted images
Autonomic nerve function tests (orthostatic tilt test, sweat secretion test), bladder function tests, and polysomnography are used to supplement diagnosis and evaluate symptoms.
treatment
There is no curative treatment yet, and symptomatic treatment for each symptom is the focus.
Orthostatic hypotension: After non-pharmacological measures (slow standing, compression stockings, increased water and salt intake), drugs such as midodrine and fludrocortisone are used together.
Parkinson's symptoms: Levodopa is tried in MSA-P type, but the response is poor and the duration is short.
Bladder dysfunction: Antimuscarinic drugs, intermittent self-catheterization, and in some cases, intravesical Botox injections.
Rehabilitation treatment: Physical therapy (gait training, fall prevention), speech therapy (speech and swallowing disorders), and occupational therapy are important for maintaining function.
prognosis
Multiple system atrophy is a disease that progresses continuously. The median survival time after diagnosis is reported to be approximately 6 to 9 years, and the time when walking assistance becomes necessary is on average 3 to 4 years after diagnosis. Aspiration pneumonia, cardiopulmonary complications, and falls are the main causes of death. Early diagnosis, management of autonomic function, prevention of aspiration, and multidisciplinary team approach are key to maintaining quality of life.
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This information is provided for medical educational purposes and is not a substitute for individual medical care or treatment. If you have any symptoms, be sure to seek professional advice. Inquiries: Osang Neurosurgery 1599-5453 | osns.co.kr