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Multiple System Atrophy (MSA) - Pakinsonian Subtype

Name of disease:

Multiple System Strophy (MSA) -Pakinsonian Subtype

ICD-10 diagnosis code:

G23.2 G23.3

Causes:

Multiple System Atrophy (MSA) is a rare disease with progressive loss of nerve cells in the brain (a neurodegenerative disease), MSA affects several areas of the brain, affecting autonomic functions such as blood pressure and temperature regulation. Multiple System Atrophy can be further divided into two forms with slightly different signs and symptoms. 1. MSA-P(parkinsonism) appears with unusually slow movement, muscle rigidity, tremors balanced problems 2. MSA-C(cerebellar ataxia) appears with difficulties in coordination and balance, speech difficulties and controlling eye movement problem.

Mode of inheritance:

The exact cause of multiple system atrophy remains unknown It is likely to be a combination of certain genetic variations, toxins, trauma and unknown environmental factors. Research shows multiple system atrophy may be related to mutation in COQ2 gene in chromosome 4. Most cases occur at random, without any other cases in the family.

Prevalence:

1/50,000-1/20,000

Diagnosis:

No laboratory or imaging studies are able to confirm the diagnosis. Diagnosis of MSA is suggested by a combination of symptoms, physical examination assess muscles, lab test results, and response to certain medications. MRI and [18F]-fluorodeoxyglucose positron emission tomography can be also done to investigate brain structure. Nervous System Diseases

Age of onset:

Adulthood, the initial symptoms of MSA start around age 50

Common signs and symptoms:

Very similar to the initial symptoms of Parkinson’s disease. These symptoms may include 1. slowness of movement, 2. tremor at rest, or rigidity (stiffness), 3. Balance impairment - clumsiness or coordination problems, 4. difficulties with speech, Orthostatic hypotension Abnormal walking pattern - muscle contractures, abnormal posture, bending of the neck,</span Abnormal brain FDG positron emission tomography Abnormal rapid eye movement during sleep Bladder dysfunction Erectile dysfunction Constipation Involuntary sighing, trouble sleeping and emotional problems Cognitive impairment As MSA progresses, breathing problems while sleeping (sleep apnea) and irregular heart rhythms

Available treatments (medicinal and non-medicinal):

Currently, there are no treatments to delay the progressive neurodegeneration of MSA, and there is no cure. The treatments goal is to control symptoms of MSA Medication: AMATINE NORTHERA Levodopa - may improve motor function Fludrocortisone and midodrine - orthostatic hypotension Anticholinergic drugs (Oxybutynin or Tolteridine) - Bladder control problems, may reduce the sudden urge to urinate. Injections of botulinum toxin - may control fixed abnormal muscle postures (dystonia) Clonazepam, melatonin, or some antidepressants – treat sleep behavior disorder

Disease management tips:

The fainting and lightheadedness from orthostatic hypotension may be treated with simple interventions 1. wearing compression stockings, adding extra salt and/or water to the diet, and avoiding heavy meals. 2. advised to sleep with the head of the bed tilted up. Some individuals with MSA may have significant difficulties with swallowing and may need a feeding tube or nutritional support. Speech therapy may be helpful in identifying strategies to address swallowing difficulties. Physical therapy helps maintain mobility, reduce contractures, joints moving freely, and decrease muscle spasms and abnormal posture. Individuals may eventually need assistive devices such as Walkers and wheelchairs. Occupational therapists help with home safety and learning new ways to address activities of daily living such as dressing and eating. There is no known way to prevent the disease from getting worse. Advance rapidly over the course of 5 to 10 years, with progressive loss of motor function and eventual confinement to bed. People with MSA often develop pneumonia in the later stages of the disease and may suddenly die from cardiac or respiratory issues. Most people with MSA survive between 6-15 years after symptoms first begin.

References:

https://rarediseases.info.nih.gov/diseases/7079/multiple-system-atrophy https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Multiple-System-Atrophy

Other useful websites:

More about the disease:https://www.brain.org.hk/zh_hk-brain-postDetails-249.html