Health TopicsGenetic disorders and birth defects

Genetic disorders and birth defects

Find out everything you need to know about genetic disorders, including symptoms, treatment, causes, management and more.

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Questions to ask when prescribed a new therapy for CAH
Treatment for CAH will change over a person’s lifetime. Ask these questions when discussing new medi...

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CAH: How to get the most from treatment
Five basic but important strategies that can help a person see the most benefit from treatment for C...

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Achondroplasia: How to prepare for a healthcare appointment
Use this checklist as a guide when preparing for appointments with your achondroplasia healthcare te...

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Achondroplasia: Coordinating care among your providers
Two strategies to ensure good communication among your healthcare providers when managing achondropl...

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Taking care of mental health when living with PNH
Strategies for coping with the stress of living with a chronic condition like paroxysmal nocturnal h...

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Understanding and managing fatigue caused by PNH
A look at how paroxysmal nocturnal hemoglobinuria (PNH) causes and contributes to fatigue, and how t...

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The downsides of at-home genetic testing
Among the potential drawbacks: privacy issues, questionable results, and unnecessary worries.

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How do direct-to-consumer genetic health risk tests work?
At-home genetic health risk tests can detect your predisposition to a variety of conditions.

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Virtual Journey: ATTR Amyloidosis
Transthyretin amyloid cardiomyopathy is a condition that is caused by a buildup of abnormal protein ...

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5 answers about ATTR amyloidosis
How ATTR amyloidosis affects different organs, and what people with this condition need to know abou...