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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How Porphyria Can Impact Sleep (And What to Do About It)
The relationship between porphyria and sleep, with strategies that might help if you are struggling ...

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Porphyria: Coping with the Stress of a Chronic Condition
Why identifying and reducing stress is essential to the long-term management of porphyria.

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Understanding the Symptoms of AADC Deficiency
AADC deficiency is a rare genetic disorder that can cause developmental delays and other neurologica...

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AADC Deficiency: Working with a Pediatric Healthcare Team
Tips, questions, and topics to help a child with AADC get the healthcare they need.

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Learn How to Manage Acute Porphyria and Pain
Understanding why acute forms of porphyria cause pain, including chronic pain.

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5 Resources for People with Spinal Muscular Atrophy
Use these links to learn more about spinal muscular atrophy (SMA), including patient education and s...

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Choosing a College or University When You Have SMA
Questions that students with spinal muscular atrophy—and their parents—should ask when choosing a sc...

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Caregiving for A Young Adult with SMA
How your role as a caregiver may change as your child with SMA reaches adolescence and young adultho...

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What is the Treatment for Spinal Muscular Atrophy?
Learn about the medications and therapies that can help slow the progression of spinal muscular atro...

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Coping with the Emotional Impact of SMA
How to find healthy ways to cope with the mental and emotional challenges of living with spinal musc...