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Genetic Diseases

Genetic disorders are caused by a mutation in one or more genes. These are passed down through your family, but can also be triggered by environmental factors.

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ALS is a condition that affects nerve cells, leading to eventual loss of control over muscle function. Symptoms include muscle twitches, cramps or weakness.
Hemochromatosis, known as iron overload, is a medical condition that can be genetic or caused by too much iron from blood transfusions. The key symptoms are diabetes, bronzing of the skin, and cirrhosis (liver changes).
Malignant hyperthermia is a genetic condition that results in a severe reaction to anesthesia. Symptoms include muscle rigidity and high body temperature.
Congenital adrenal hyperplasia (CAH) is an inherited (genetic) disorder that causes the adrenal glands to make too much or too little of important hormones.
Friedreich's ataxia is a disease that causes progressive damage to the nervous system and affects nerve fibers leading from the spinal cord to the arms and legs.
Alport syndrome is a rare condition that is caused by a mutation in one of the genes responsible for collagen production. Follow-up with a doctor can help reduce damage to various organs affected.


Adrenoleukodystrophy (ALD) is a genetic disease that usually affects males. The brain disorder destroys the nerve cells that allow us to think and to control our muscles.
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Pigmented Villonodular Synovitis

This article will review the symptoms, causes, and management of pigmented villonodular synovitis. Symptoms of this rare joint disease include joint pain, swelling, stiffness, and instability.
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