There are several different forms of muscular dystrophy, each of which weakens different muscle groups in various ways. The first type is Duchenne Muscular Dystrophy, the most common type of the disease, is caused by a problem with the gene that makes the protein, dystropin. The second type is Becker Muscular Dystrophy, which is similar to Duchenne’s, but it’s symptoms like muscle breakdown and weakness occur at age 10 or even as an adult. The third type is Emery-Driefuss Muscular Dystrophy which affects mostly boys, involves joint problems in muscles, upper arms, and shins. There are also many other types, but these are the most common.
Depending on how serious the symptoms are, is how long the person will live. They may live as long as a normal person. In LOTS, the body makes small amounts of hex A. People with LOTS inherit the late-onset hex A, gene from both parents or inherit one late-onset gene and one inactive gene. Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A.
The reason for the syndrome is unknown, but researchers think that disruption of the development of the fetus leads to the problems to develop. The precise cause of Prune-Belly syndrome isn't known. Ulcerative colitis is thought to be an auto-immune condition. While constipation is a rather basic digestive problem, it is going to occur differently for different folks, simply because no 2 people have the same kind of bowel movement. Chronic constipation was attributed to a reduction in abdominal wall pressure, which is crucial to aid in
Smith and Ellen Magenis, the syndrome results from a deletion on chromosome 17, specifically referred to as deletion 17p11.2 ( Fundukian, 2010). Smith-Magenis Syndrome (SMS) for Dummies Smith-Magenis syndrome is one of the many genetic disorders babies have a risk of being born with. SMS is a relatively rare genetic mutation in the general population that is caused by the deletion on chromosome 17. There are several distinct features of the body parts with SMS including mental retardation. Body parts that are usually directly affected are facial parts, the toes, the fore head, the ears, and the hands.
This is called choridal neovascularization. These blood vessels leak blood and fluid into the retina, causing distortion of vision. The dry form of macular can also lead to the wet form. Only about 10% of patients with macular degeneration develop the wet form, they make up the majority who experience serious vision loss from the disease. Macular degeneration can be passed from parent to child, smoking, high blood pressure, high cholesterol, obesity, and being light skinned, female and having light eye color are also risks for macular degeneration (webmd copy write 2005-2014, LLC) Glaucoma is an eye disease characterized by dysfunction of the ocular drainage system.
Type 1 is the most severe form. Children with type 1 Usher syndrome are born deaf at birth and have major balance problems. Children with type 1 Usher syndrome usually lose their vision by age 10. Type 2 Usher syndrome characteristics include moderate to severe hearing loss at birth but normal balance. Depending on the severity of hearing loss most children with type 2 can benefit from hearing aids and communicate verbally.
The prenatal form has been described as a more severe, congenital form of Caffey disease that is probably inherited as an autosomal recessive trait. Patients present with major angulation of the long bones, generalized symmetrical involvement of the skeleton, and polyhydramnios. Because the prenatal form is a rare presentation of Caffey disease, the remaining discussion in this article, except in the differential diagnostic section, pertains to the more common, infantile form. [5, 6] Hyperostosis has also been
According to the CDC, 50% of African American women, 40% of Mexican women, and 30% of Caucasian women are obese and therefore at risk for development of type 2 diabetes. Improved screening and education strategies are necessary in reversing the trend of this devastating chronic disease. Morbidity and Mortality “In the United States, an estimated 7% of the population, (20.8 million people), have diabetes mellitus; 14.6 million people have been diagnosed and 6.2 million remain undiagnosed. In addition, approximately 41 million Americans have prediabetes, which may eventually lead to a clinical diagnosis of diabetes,” (DISEASEDEX, 2012). In 2009, diabetes was the cause of death in 150 women in Allegheny County alone, (PA Department of Health, 2009).
The characteristics of this disease include a poor attention span, impulsive behaviors, and some children may show hyperactive tendencies. This disease affects between 3% and 7% of American children and has shown to be 10 times more dominant in males. Other risk factors include genetics, Perinatal or Postnatal injuries and Biochemical Irregularities. Nutrient deficiencies are also a risk factor along with sensitivities to chemicals, molds and exposure to heavy metals and pollutants. Most of the mentioned risk factors can be corrected or prevented without medication.
Informative Speech Ella-Louise was just 10 months old when she died 2 years ago from a rare, and terminal genetic disease called Krabbe disease. Krabbe disease is a genetic mutation that damages the nervous system, specifically the growth and maintenance of Myelin, which allows the nervous system to send signals throughout the body. Genetics Home Reference explains, “The symptoms of Krabbe disease usually begin before the age of 1 year. Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe.