Genetic Diseases

Becker muscular dystrophy (BMD) is a genetic condition that leads to progressive muscle wasting. Symptoms are muscle weakness, shortness of breath, and fatigue.

This article will review the symptoms, causes, management, and prognosis of chronic granulomatous disease. The most common symptoms are recurrent respiratory and skin infections that are often severe, although infection anywhere in the body is possible.

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.

Bloom syndrome is a rare, inherited genetic disease passed through families. It is characterized by small stature, a thin frame, and an increased cancer risk.

Malignant hyperthermia is a genetic condition that results in a severe reaction to anesthesia. Symptoms include muscle rigidity and high body temperature.

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).

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.