Children are usually diagnosed before six months of age, more often before three months of age. Symptoms may even start in the womb. (Hockenberry & Wilson, 2007, p. 1816)The most cardinal clinical manifestation of the disease is inactivity. Other symptoms are floppy limbs and trunk, feeble movements of the arms and legs, swallowing difficulties, poor sucking reflex, weakness, absent deep tendon reflexes, weak cry or cough, , flaccid or reduced muscle tone, the patient may tire easily, exhibit a failure to thrive, posses abnormal tongue movements, and the patient is unable to sit alone, roll over independently, or walk. Their chest may appear concave or Bell-shaped.
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
It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Symptoms usually begin to appear between three and five years of age. The disorder progresses rapidly, starting with muscle weakness in the legs and pelvis, and eventually spreading to the arms, necks, and other areas. By the age of 12, most boys cannot walk and require the use of a wheelchair. They can also develop scoliosis and tightness in their joints.
Antispasmodic and anticonvulsant medications will help control muscle spasms and seizures. Physical therapy can be beneficial in maintaining muscle strength, improving balance and preventing contractures. Children with Tay-Sachs have a higher risk to develop chronic lung infections. These infections result in mucus accumulation and breathing difficulties so chest physiotherapy can be beneficial in breaking up this mucus accumulation. Respiratory therapists can teach the parents how to perform
Incorporating physical activity into my daily life is, also a very important choice that I can make in my life to decrease my modifiable risk factors for diabetes. Overall health and wellness is important, it will help you to decrease your chances of developing
There is a 25% risk of giving birth to an affected child with each pregnancy. The prognosis of a newborn infant that is born with Tay-Sachs disease is poor. Due to the complications of the disease, the average age death will occur is between 4 to 5 years old. The first symptoms usually appear between 3-6 months of age. The most common symptom that appears is a “cherry red” macula in the retina.
NOONAN FAMILY Alzheimer disease is a very bad disease. This family has lost so much and it started at an early age for them with their mother. Then they lost their mothers twin to this and 2 siblings and now another sister has symptoms of it too. If I was part of Noonan family I would open up and talk about this horrible disease too, and let everyone know what it can do. Since researchers know that there are at least 3 genes that can cause early onset Alzheimer’s I would want to be tested so that I know whether or not the defective genes have been passed down to me too.
Children are exposed to situations of terror and horror during wars, such experiences that may leave traumatic impacts upon the children. We fear for our children and do what we can to protect them at all costs as the parents are depicted in the Freedom of Fear
The infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out. As the disease continues to progress, the symptoms the child experiences become more dominant. The child then begins experiencing symptoms that include: deafness, blindness, feeding difficulties, loss of motor skills, abnormal body tone, loss of intellectual skills. Progressive damage caused by the buildup of GM2 ganglioside (A fatty “lipid” substance found within the brain and nerve cells) leads to the destruction of nerve cells, which causes the signs and symptoms of Tay-Sachs disease. (http://www.disabled-world.com/disability/types/tay-sachs.php) How do these people live their lives People with Tay-sachs have a tougher life than most.
It is an inherited condition that is passed down through the family. For a child to have Usher syndrome, both parents must either carry the affected genes, or have the same type of Usher syndrome themselves. Living with Usher syndrome When someone finds out that they have Usher syndrome, the news can be devastating. They will have grown up with deafness or hearing loss, and coming to terms with losing their sight as well can be very hard. People