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Category: Genetic Disorders

Givlaari (Givosiran) – Subcutaneous

What Is Givlaari? Givlaari (givosiran) is an injectable prescription medication used to treat adults with acute hepatic porphyria (AHP). AHP is...

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What Is Distal Muscular Dystrophy?

Distal muscular dystrophy is the name of a group of progressive disorders that leads to weakness in the distal muscles. Distal muscular dystrophy...

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What Is Gorlin Syndrome?

Gorlin syndrome is a rare genetic disease that causes symptoms such as basal cell carcinomas and tumors. It can be challenging, but isn't fatal...

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What Is Gene Therapy?

Learn about gene therapy, which attempts to cure disease or improve the body's ability to fight it by adding a new gene or replacing a faulty...

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Causes and Risk Factors of Fanconi Anemia

The exact cause of Fanconi anemia (FA) is unknown, but research has uncovered at least 16 genes that are linked to the disease. Learn more. Fanconi...

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What Is Kallmann Syndrome?

Kallmann syndrome is a genetic conditions causing delayed puberty and impaired sense of smell. It can be easily treated with established therapies....

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Muscular Dystrophy Life Expectancy

Muscular dystrophy life expectancy varies significantly based on disease type. Some have a normal life span, while others have a reduced life span....

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What Is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a progressive, usually fatal, genetic disorder that causes muscle weakness. Find out more. Duchenne muscular dystrophy...

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What Is Facioscapulohumeral Muscular Dystrophy?

Facioscapulohumeral muscular dystrophy causes progressive muscle damage but is not as severe as other muscular dystrophies. Learn more....

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What to Know About Muscular Dystrophy in Children As a Parent

Signs of muscular dystrophy in children appear around age 2-5 when a child starts to walk. Learn how to cope as a parent and help your child live...

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What Is Von Hippel-Lindau Disease?

Von Hippel-Lindau (VHL) disease is a hereditary condition associated with tumors arising in multiple organs. Learn more. Von Hippel-Lindau (VHL)...

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Symptoms of Von Hippel-Lindau Disease

VHL disease itself often has no symptoms, but the tumors related to VHL disease may have noticeable signs. Learn more about symptoms and causes of...

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How Von Hippel-Lindau Disease Is Diagnosed

Diagnosing VHL disease typically involves imaging scans, blood tests, and a physical examination to check for tumors. Learn more. Von Hippel-Lindau...

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Living With Von Hippel-Lindau Disease

With the right coping strategies, you can learn to live with the emotional, physical and social effects of Von Hippel-Lindau disease. Von...

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What Is Congenital Muscular Dystrophy?

Congenital muscular dystrophy is an umbrella term for a category of genetic muscle diseases seen either at birth or shortly after. Congenital...

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What Is Homozygous Familial Hypercholesterolemia?

Homozygous familial hypercholesterolemia is a rare genetic condition that leads to extremely high cholesterol levels and an increased risk of early...

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Causes and Risk Factors of Xeroderma Pigmentosum

Xeroderma pigmentosum is a rare genetic condition. Learn about the common causes, the role of genetics, and lifestyle risk factors. Xeroderma...

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What Is Xeroderma Pigmentosum

Xeroderma pigmentosum is a rare genetic condition that causes extreme sun sensitivity. Learn its symptoms, causes, diagnosis, treatment, and more....

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What Is Ataxia-Telangiectasia?

Ataxia-telangiectasia (A-T) is a rare genetic condition causing severe disability. Treatment focuses on symptom relief. Learn more about A-T....

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How Xeroderma Pigmentosum Is Treated

Xeroderma pigmentosum treatment includes preventative measures, over-the-counter therapies, prescription treatment, surgery for lesions, and more....

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How Ataxia-Telangiectasia Is Treated

Treatment for ataxia-telangiectasia includes fighting respiratory infections and controlling the spread of and severity of dilated blood vessels....

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Causes and Risk Factors of Ataxia-Telangiectasia

Ataxia-telangiectasia is caused by a gene mutation known as ATM (ataxia telangiectasia mutation). Risk factors include having a family history of...

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How Xeroderma Pigmentosum Is Diagnosed

What to know about self-checks, physical exams, labs and tests, imaging, and differential diagnosis for xeroderma pigmentosum. Not everybody does...

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Symptoms of Xeroderma Pigmentosum

Symptoms of xeroderma pigmentosum can include blistering and severe sunburn, freckling at a young age, dry parchment-like skin, light sensitivity,...

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How Ataxia-Telangiectasia Is Diagnosed

Diagnosis of ataxia-telangiectasia includes clinical evaluation, symptoms, blood tests, magnetic resonance imaging (MRI), and karyotyping....

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Symptoms of Ataxia-Telangiectasia

Ataxia-telangiectasia (A-T) is characterized by symptoms such as impaired coordination and speech and the appearance of tiny but dilated blood...

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How Hypophosphatasia Is Treated

Hypophosphatasia treatment includes a wide range of therapies, including at-home remedies, over-the-counter and prescription medicines, and more....

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Hypophosphatasia Symptoms and Causes

Hypophosphatasia is a rare inherited disorder that impairs bone and tooth development. Learn about the signs and symptoms of this condition, reviewed...

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