The most common and serious form is one that occurs in babies. This is infantile Tay Sachs. Symptoms start showing on the baby when they are around twelve to twenty-four weeks old. Sadly, they usually die at around four or five years old. Juvenile Tay Sachs is a form that occurs in older children.
In sickle cell anemia, the abnormal haemoglobin (Haemoglobin-S) sticks together when it gives up its oxygen to the tissues. These clumps cause red blood cells to become stiff and shaped like a sickle. It takes two copies of the sickle cell gene for the body to make the abnormal haemoglobin found in sickle cell anemia. Sickle-cell anemia is caused by a point mutation in the ß-globin chain of haemoglobin, replacing the amino acid glutamic
Tay-Sachs Disease and The Teaching Plan Tay-sachs disease is an inherited disease that is common among Ashkenazi-Jewish population. It occurs from a mutation in the HEXA gene also known as deficiency of the human chromosome 15 in DNA. This missing chromosome affects nerve cells in the brain. This disease is an autosomal recessive inheritance, “such diseases do not occur unless two genes for the disease are present, that is, a homozygous recessive pattern.” (Lippincott, 1999,p 150). There is a 25% risk of giving birth to an affected child with each pregnancy.
The likelihood of the child getting Farber’s is twenty five percent; there is a fifty percent chance that the child will carry the defective gene with no symptoms, a carrier. Farber’s has no known cure, but there is research for a cure in progress. References "Farber's Disease Information Page." National Institute of Neurological Disorders and Stroke (NINDS). 23 Apr.
There are different forms of the disease, and it is hard to predict if a person will experience a mild form or a severe one. People who experience sudden attacks of symptoms, which then improve or completely disappear are said to have the relapsing remitting form of the disease. This is the most common form. About two thirds of people with this end up going on to develop the secondary progressive form after 15 years (Multiple Sclerosis 2010). This is when their symptoms fail to recover and gradually worsen.
. Fibrodysplasia Ossificans Progressisiva | By: Alex Belue | | Health Science 1 | 1A/2A | | Alex Belue Health Science 1 1A/2A February 4, 2011 Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressisiva (FOP) an extremely rare skeletal disease that affects the bones and the connective tissues surrounding them. The joints are basically frozen into place. There have not been many cases reported about this disease since it is so rare. Children that are born with FOP have missing joints or strange lumps near the joints.
Since it is impossible to predict how long the disease has been active before being diagnosed, many patients last less than a year. However, life span can be five years after diagnosis and a small percentage survive ten years. Older persons and those with bulbar form tend to have a worse prognosis. About five to ten percent of ALS victims have an inherited disease, which strikes at a younger age and consecutive generations. Non-inherited ALS develops between 40 to 70 years of age and does not have racial, ethnic, or socioeconomic boundaries.
This mutant gene has been found to be 10 times more likely to occur in depressed patients. Although MDD has been consistently shown to run in families, it is not easy to disentangle the effect of genetics from the effects of the environment. Whilst there appears to be some degree of genetic evidence for depression, in most cases those diagnosed hare the same environment, which mean it may equally be a learned
Genetic Disease Decision Contemporary Nursing Issues April 21, 2012 Tay-Sachs disease is a rare neurological disorder that progressively destroys nerve cells in the brain and spinal cord. Signs and symptoms of Tay-Sachs become apparent during infancy, the infant may appear to be developing normal, about three to six months old the infant begins to show common symptoms slowing development, weakening muscles, and loss of motor skills. As the disease progresses the infant may develop increased startle reflex, loss of hearing and vision, inability to swallow, and paralysis. The infant also develops an eye abnormality called cherry-red spots discovered during eye examination and is a characteristic of Tay-Sachs disease.” Children with
Becker Muscular Dystrophy is a milder form of Duchenne; it has a later age onset, some as late as 40 to 50 years of age and a slower clinical progression (DMD, 2009). Muscle weakness can occur as early as three years old. Parents can notice enlarged calf muscles in toddlers. As they get older they will become clumsy and fall often. By school age, children may walk on their toes or the balls of their feet with a slightly waddling gait, and frequently fall.