Overview
A healthcare provider will diagnose congenital myasthenic syndrome after a physical and neurological exam. They’ll review your symptoms and take a complete medical history. If they suspect CMS, they may ask you to perform a physical activity under their supervision to observe how your body reacts, like walking up stairs, for example. They may offer tests to rule out conditions with similar symptoms, like:
- Blood tests.
- Nerve conduction study.
- Electromyography.
Congenital myasthenic syndrome genetic testing
Genetic testing helps your healthcare provider detect the gene change that’s causing your symptoms. Your provider may draw a small sample of your blood to examine your DNA. The gene change can help your provider detect what type of CMS you have and where in your neuromuscular junction there’s an issue.
Symptoms
When to see a doctor
Complications
- High blood pressure.
- Diabetes.
- Heart failure.
- Some types of heart valve disease.
Prevention
- Control high blood pressure, high cholesterol and diabetes.
- Don't smoke or use tobacco.
- Eat a diet that's low in salt and saturated fat.
- Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
- Get good sleep. Adults should aim for 7 to 9 hours daily.
- Maintain a healthy weight.
- Reduce and manage stress.
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