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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Treatment options for hATTR amyloidosis
An overview of TTR stabilizers and gene-silencing therapies for treating hereditary transthyretin (h...

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Managing multiple medications for treating CAH
Strategies for keeping medications and dosing schedules organized when treating congenital adrenal h...

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A guide to coordinating care for CAH
Strategies for working with multiple healthcare providers and specialists during the treatment of CA...

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CAH and taking care of yourself as a parent or caregiver
Strategies for managing stress and avoiding caregiver burnout when caring for a child with congenita...

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Building a support network for CAH
A support network can help you prepare for the challenges of managing congenital adrenal hyperplasia...

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ATTR cardiomyopathy: gene silencers and gene stabilizers
A look at two types of disease-modifying therapies used in the treatment of ATTR cardiomyopathy.

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ATTR-CM: Questions to ask when starting a new treatment
Questions to discuss with your healthcare provider when changing or adding therapies for ATTR-CM.

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Paroxysmal nocturnal hemoglobinuria: a glossary of terms
Terms that can help you make sense of what is happening in the body when a person has PNH.

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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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NF1: plexiform neurofibromas and other complications
Plexiform neurofibromas are large tumors that can occur when a person has neurofibromatosis type 1 (...