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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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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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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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...

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The relationship between NF1 and blood pressure
A look at what we know and don’t know about the relationship between neurofibromatosis type 1 (NF1) ...

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What people with PNH need to know about blood clots
Blood clots are the most common severe complication of paroxysmal nocturnal hemoglobinuria (PNH).

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Coping with a delayed diagnosis of PNH
Misdiagnosis and delays in diagnosis are a challenge for many people living with paroxysmal nocturna...

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Strategies to stay organized with PNH treatment
How keeping a personal health record and symptom journal can help you manage paroxysmal nocturnal he...

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What to ask when starting a new treatment for PNH
Ask these questions when prescribed any new treatment for paroxysmal nocturnal hemoglobinuria (PNH)....

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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...