Myotonic dystrophy: causes, treatment and prevention.

Definition Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time. Signs and symptoms of myotonic dystrophy usually develop when …

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Beckwith-wiedemann syndrome (bws): Causes, Complications, Risks and Treatment

Definition Beckwith Wiedemann Syndrome is a congenital overgrowth disorder usually present at birth. BWS is characterized by large body size, enlarged organs, macroglossia (enlarged tongue), midline abdominal wall defects (omphalocele/exomphalos, umblicial hernia, diastasis recti), neonatal hypoglycemia and greatly increased risk of childhood cancer, particularly liver and kidney tumors. Beckwith Wiedemann …

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Aneurysm: Causes, Complications and Treatment.

Definition About 13,000 deaths occur each year in the United States from aortic aneurysms. An aneurysm occurs when an artery’s wall weakens and causes an abnormally large bulge. This bulge can rupture and cause internal bleeding. Although an aneurysm can occur in any part of your body, they’re most common …

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Narcolepsy: causes, symptoms, treatment and prevention

Definition Narcolepsy is a chronic sleep disorder characterized by overwhelming daytime drowsiness and sudden attacks of sleep. People with narcolepsy often find it difficult to stay awake for long periods of time, regardless of the circumstances. Narcolepsy can cause serious disruptions in your daily routine. Sometimes, narcolepsy can be accompanied …

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Alkaptonuria: Causes, symptoms, treatment and prevention

Definition Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called homogentisic dioxygenase (HGD). This enzyme is used to break down a toxic substance called homogentisic acid. When you don’t produce enough HGD, homogentisic acid builds up in your body. The buildup …

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Apallic syndrome or Unresponsive Wakefulness Syndrome (UWS): Causes, diagnosis, treatment and prognosis.

Introduction Apallic syndrome (AS) also called Unresponsive Wakefulness Syndrome (UWS) and Persistant Vegetative State. It is a result of a traumatic brain injury such as diffuse, bilateral cerebral cortical degeneration and anoxia, or encephalitis which causes the brain to halt the ability to create thoughts, experience sensation, and remember past …

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Hemochromatosis: Causes, risk factors and medications.

Definition Hemochromatosis is an iron disorder in which the body simply loads too much iron. This action is genetic and the excess iron, if left untreated, can damage joints, organs, and eventually be fatal. Types Hereditary hemochromatosis isn’t the only type of hemochromatosis. Other types include: Juvenile hemochromatosis: This causes …

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Marfan syndrome: Causes, risk factors and treatment.

Definition Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.  Normal and marfan syndrome Connective tissue is made up of proteins. The …

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Thalassemia: History, complications and prevention.

Definition Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your …

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