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Hereditary disease Disease

What is it description?

Treatment

Sickle cell disease

Is an autosomal recessive genetic blood disorder with overdominance

avoiding crises, relieving symptoms and preventing complications.

Cystic fibrosis

Is an inherited disease that affects the secretory glands

Treatment may include nutritional and respiratory therapies, medicines, exercise, and more.

Hemophilia

is a disorder of your bloodclotting system. Clotting is the process by which your blood changes from a liquid to a solid state.

Treatment may involve slow injection of the hormone desmopressin into a vein to stimulate a release of more clotting factor to stop bleeding.

Muscular dystrophy

is a group of genetic diseases in which muscle fibers are unusually susceptible to damage.

Several different types of therapy and assistive devices can improve quality and sometimes length of life in people who have muscular dystrophy.

Tay-sachs disease

is a rare autosomal recessive genetic disorder.

treatment for Tay-Sachs is focused on controlling the symptoms of Tay Sachs disease.

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Phenylketonuria

is an autosomal recessive metabolic genetic disorder

a strict diet with very limited intake of phenylalanine, which is mostly found in foods containing protein.

Color Blindness

is the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.

There is generally no treatment to cure color deficiencies.

Achondroplasia

is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 75% of cases

At present, there is no known treatment for achondroplasia, even though the cause of the mutation in the growth factor receptor has been found.

Angelman Syndrome

is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.

There is currently no cure available. The epilepsy can be controlled by the use of one or more types of anticonvulsant medications.

Retinoblastoma

is a rapidly developing cancer that develops from the immature cells of retina, the lightdetecting tissue of the eye and is the most common malignant tumor of the eye in children

The priority of Rb treatment is to preserve the life of the child, then to preserve vision, and then to minimize complications or side effects of treatment.


Joubert Syndrome

is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.

Down Syndrome

is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.

Many children with Down syndrome graduate from high school and can do paid work,[9] or participate in university education.[10] Management strategies such as Early childhood intervention


Hereditary disease