Tay Sachs Research Paper

Symptoms may range from a localized, limited form (ocular myasthenia), which affects the eye muscles, to a generalized, severe form, which affects many muscles, including those involved in breathing. Eye symptoms may manifest as drooping of the eyelids, blurred vision, or double vision. Other symptoms of myasthenia gravis include waddling or unstable gait, changes in facial expression, difficulty swallowing, impaired speech, shortness of breath, and weakness of the arms, hands, legs, and neck. When to See a Doctor Consult your doctor immediately if you experience difficulty

In addition, gallstones and kidney stones may also develop as a result of Crohn 's disease. It is often inherited. About 20% of people with Crohn 's disease may have a close relative with Crohn 's disease. It can affect people of all ages, it is primarily an illness of the young. Most people are diagnosed before age 30, but the disease can occur in people in their 60 's, 70 's, or even later in life.

It can also lead to pneumonia, sinus infections and blood poisoning. Children under the age of two and older adults who have weak immune systems are at the most risk. Pneumococcal meningitis is harmful and can cause severe brain damage or ca even cause someone to go deaf. Meningococcal meningitis is the second most common form of meningitis and it is caused by the bacterium Neisseria meningitides. People at risk for this disease include infants under the age of one, people who travel to foreign countries, freshmen in college who live in the dorms and people with suppressed immune systems.

Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

Treacher Collins syndrome is a genetic disorder that affects the development of craniofacial. It results abnormalities in face and head due to hypoplasia of facial structures such as the lower jaw (mandible), cheekbones and abnormal small chin micrognathia. In addition, some patients with this syndrome are also born with an abnormal opening in the roof of the mouth (cleft palate), but in severe cases, hypoplasia of the facial bones may restrict the infant’s airway of breathing causing life-threatening respiratory

Childhood vaccinations are extremely important you also get vaccinations to prevent infection If you are wanting to reduce pain then you can take hydroxyurea reduce a pain crises. Another option is a blood transfusion when you have a blood transfusion the red blood cells from the donor are taken out and then given to someone with sickle cell anemia. There is also a experiment going on with bone marrow

This type of trauma affecting vision can eventually lead to blindness. Hearing impairment caused by TBI is usually associated with injury to the middle or inner ear. Higher hearing frequencies are usually more affected by this type of trauma Individuals who suffered a TBI are recommended to perform a series of vision and hearing

3, 4, 6b, 8, 10 Clinical signs include muscle weakness and atrophy, exercise intolerance and a paddling gait. Dysphagia and regurgitation are frequently seen with degeneration of the esophageal and pharyngeal muscles. Creatine kinase levels are elevated and there are bizarre discharges on EMG. The breed has also been listed as being predisposed for umbilical hernias. 4, 8 NEUROLOGIC Epilepsy 4, 8 and deafness 8 have been listed as occurring in the breed.

Muscles in the jaw and tongue, required for proper speech and oral movements can be impacted by cerebral palsy which can cause difficulty talking, drooling, chewing and even breathing. Depending on the type of cerebral palsy you have, there are different impairments involving speech. People with spastic cerebral palsy have slow and tend to struggle with oral movements that require a lot of effort. Athetoid cerebral palsy cases have difficulty controlling their face movements. They cannot control their movements that their face makes and vocal cords, this results in random sounds and mumbling.

It is most often asymptomatic. However, the lesions may become ulcerated or spread, becoming very painful. The oral lesions typically affect the sides of the tongue, the buccal mucosa or the gingival mucosa. In about a fourth of patients, the vulva or vagina is also involved. However, oral LP may also be accompanied by lesions in the scalp, the nails and the eyes.

Rett Syndrome almost always affects girls; it is rarely seen in boys. The disease is a mutation of the X chromosome on a gene named methyl-CpG-binding protein 2 or MeCP2. Although MeCP2 is a genetic mutation, the defective gene is never inherited from the parents. The MeCP2 gene generates a multi-functional protein necessary in the development of the nervous system, especially the brain. Rett Syndrome affects the brains functions causing an impact on learning, speech, sensory sensations, mood, breathing, cardiac function, as well as chewing, swallowing and digestion.