Biology Research Paper Duchenne Disorder (Duchenne Muscular Dystrophy) Duchenne disorder is classified as a very severe, rare case of muscular dystrophy, which is a group of inherited disorders that cause muscle weakness. It affects all voluntary muscles, as well as the heart and breathing muscles. This particular disease is, in fact, genetic. Unlike a lot of genetic disorders, Duchenne disorder occurs in people that do not have a family history of the condition. According to a study by the Muscular Dystrophy Campaign, in the United Kingdom, 1 of every 3500 males is born with Duchenne disorder.
This can result in some cells having 47 and some cells having 46 chromosomes. Accoutn for about 1% of all cases (National Association for DS) 3. Translocation- accounts for 4% of all cases. Part of the 21st chromosome breaks off and attaches to another chromosome (typically the 14th) but the total number remains 46. TRANSITION- Now I will discuss how DS is diagnosed III.
Children with Dandy Walker have many leaps and bounds not only with medical issues but with developmental issues as well. Body I. Dandy Walker is a rare genetic disorder A. complex congenital brain malformation 1. Involving the cerebellum and the fluid filled ventricles around it a. Occurs during embryonic development of the cerebellum and the 4th ventricle 2. According to the National Organization for Rare disorders Dandy walker occurs between every 25,000 and
In 1959, Lejeune identified Down syndrome as being caused by the presence of an extra chromosome 21, due to a failure in the cell division process. Subsequently, Down syndrome, also referred to as Trisomy 21, was recognised as a 'genetic condition', which affects both physical and intellectual development (Lorenz, 1998). In the UK, approximately 600-700 children are born with Down syndrome, the incidence rate increasing with advancing maternal age. It is estimated that there are around 30,000 people with Down syndrome living in the United Kingdom. The life expectancy of people with Down syndrome is currently between 45 and 55 years, with some people living beyond 60 and 70 years (Lorenz, 1998; Buckley, 2000, online).
Cystic Fibrosis is a very serious inherited genetic disease which affects one child in every 2,500 Caucasian births. This disease usually affects the lungs and causes the build up of a thick mucus which causes chest infections. These infections unfortunately usually lead to death during childhood or early adulthood. On occasion, besides affecting the lungs, it affects the bowels and the pancreas, causing blockages in the intestines and poor absorption of food. Cystic Fibrosis may first appear in a newly born baby, or in children or young adults.
It occurs approximately 9 in 10,000 live births and 1 in 365 live births in women who give birth in their mid thirties or higher. There are three types or genetic make ups of Down Syndrome: trisomy 21, mosaicism, and translocation of a chromosome. The most common is trsomy 21. That is when there are three number 21 chromosomes, as opposed to the normal two. This occurs in about 95% of the Down Syndrome births.
There is no clear cause on why ASD happens. The following genes are associated with ASD; ASD1, ASD3, NKX2-5 and GATA4, In some cases the tendency to develop an ASD may be genetic. ASD accounts for 10% of all heart defects, making them the third most common. It affects 3,000 babies per year in the United States and is almost seen twice as frequently
He explains that between 1,940 and 1,965 mutations are associated with CF, and 127 of them have been positively linked to impaired CFTR function significant enough to produce CF symptoms. The most commonly cited pathologic mutation is designated AF508, and it occurs in 70% of whites with CF (Nakano & Tluczek, 2014). Nicholson (2013) explains that CF is an autosomal recessive disease that requires inheritance of two mutant chromosomes in order for an individual to express physical symptoms. Those inheriting only one mutant chromosome are designated carriers. In their article entitled “Update in Cystic Fibrosis 2013,” authors Jain and Goss (2013) stress clinical manifestations that include bronchiectasis, chronic sinusitis, idiopathic pancreatitis, chronic obstructive pulmonary disease, meconium ileus, and congenital bilateral absence of the vas
Is there an Autism epidemic? Problem Autism is a pervasive developmental disorder that affects social and communication skills and in some cases, to a lesser degree, motor and language skills. (6) Autism was first diagnosed in the 1940’s and was described as a very rare disorder with cases being as few as one in every 10 000 children (1). By the1990’s diagnoses began to soar (as shown in graph below) and diagnosis had risen to one in every 500 children. In the 1990’s it was speculated that the increase was due to certain chemicals in vaccinations such as the MMR.
Infection rates are high in children peaking at more than 80% in those aged 5 – 9 years and falling to low levels in adults (MOH, 2009). Malaria infection during pregnancy causes maternal anaemia and placental parasitemia both of which are responsible for miscarriages and low birth weight babies among pregnant women. 13.7% of all admissions of pregnant women in 2006 were as a