Hereditary disease Disease
What is it description?
Sickle cell disease
Is an autosomal recessive genetic blood disorder with overdominance
avoiding crises, relieving symptoms and preventing complications.
Is an inherited disease that affects the secretory glands
Treatment may include nutritional and respiratory therapies, medicines, exercise, and more.
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.
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.
is a rare autosomal recessive genetic disorder.
treatment for Tay-Sachs is focused on controlling the symptoms of Tay Sachs disease.
is an autosomal recessive metabolic genetic disorder
a strict diet with very limited intake of phenylalanine, which is mostly found in foods containing protein.
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.
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.
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.
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.
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.
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, or participate in university education. Management strategies such as Early childhood intervention