Werding Hoffman Disease

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

The only exception to this is type 4, it is an autosomal dominant pattern. Type 1, 2, and 3 are all associated with children, leaving type 4 has the only type adults have. There is currently no cure for spinal muscular atrophy. The only treatment involves prevention and management of the disease. Researchers do believe that gene replacement may be a possible cure, but that will take many more years of research before they can determine if this will work.

either be “cured” or slowed down and how doctors can and cannot tell which muscular dystrophy

One of the clinical presentations observe with type I, is that the infant will present with head lag on pull to sit and they cannot rotate their head from side to side on prone. SMA type I can also interfere with oral weakness making feeding difficult. Respiratory problems is also associate with this condition causing death to more than half of children less than 2 years of age without mechanical ventilators (Tecklin, 2015). Spinal muscular atrophy type II is less severe than type I. Clinical presentation its seen during the first year of age where the child is no progressing to stant on their own due to proximal muscle weakness and wasting of the extremities and trunk (Tecklin, 2015). Children diagnose with SMA type II will remain independent sitters between the ages of 7-14. These children will not be able to ambulate independently without bracing or assistive device and even with assistance ambulation is difficult, however is encourage to promote joint mobility, and bone growth. Spinal muscular atrophy type III (Kugelberg-Welander disease) is characterized by progressive weakness, no reflexes, and fasciculation. Age presentation may vary from toddler into adulthood. If symptoms is present after 2 years of age patient may continue to ambulate until 44 year of age, on the contrary patient who’s symptoms began prior to 2 years of age may ambulate until 12 years of age. Physical therapy treatment is to maintain function and

It can also be used to test for Tay-Sachs Disease, Fragile-X Mental Retardation, Cystic Fibrosis, Down Syndrome and Spinal Muscular Atrophy. In the past couples who wanted to have childr en, and were carriers of inherited diseases, worried about the possibility of their children inheriting the disease. Parents will no longer have this worry. In 1989, an English couple became the first to use PGD [Grady,1995]. It was used because they were at risk of passing along a form of severe mental retardation. Because it only affected sons, PGD was used to ensure that the couple had a daughter.

The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

However, there are two types of ALS, which are Sporadic ALS and Familial ALS. Sporadic ALS can happen to anyone and makes up most of 90% to 95% of cases, while Familial ALS is inherited and that's about 5% to 10% of cases. Some ailments related to the disease are Primary Lateral Sclerosis (PLS), Progressive Bulbar Palsy (PBP), and Werdnig-Hoffman disease. PLS is a slightly less severe form of ALS, but it does affect the upper body. PBP is a muscle weakness of the body, however, the lower body is affected. Werdnig-Hoffman is a spinal cord disease that affects both children and infants. For all three types, there is no treatment or cure that will slow down the progression. In support of the patients with ALS, multiple support groups have been made, and in addition, patients will donate their brain to science to further the research in finding a cure. In result, ALS isn't the only disease that poses a big issue in sports, CTE also has a notable impact.

On very rare occasions when DNA studies do not present a clear picture a muscle biopsy may be required. A small piece of muscle tissue is taken with a needle, usually from the thigh. Using special staining techniques in the laboratory the muscle tissue is examined microscopically for dystrophin protein. In DMD, dystrophin is completely absent while in the related disorder Becker muscular dystrophy some dystrophin is present. Therefore, the muscle biopsy test is important in providing a definite diagnosis when DNA tests are inconclusive.

The symptoms are also effected by the age of the carrier. If an adult is experiencing muscle weakness especially in the leg, hand, neck, and face, and myotonia, which is uncontrollable contraction of muscles, they should be suspected of having DM1. If a newborn has hypotonia, facial muscle weakness, general weakness, positional malformations, or respiratory insufficiency, it should also be suspected of having DM1. Many testes are available to be able to determine if you have DM1. Some tests include electromyography, serum CK concentration, and a muscle biopsy. Checking allele sizes also help to determine whether or not you are positive for DM1. Unfortunately, since the disorder is rare, it is very difficult to predict a prognosis on it. “Non-molecular testing that has been used in the past to establish the diagnosis of DM1 currently has little role in diagnosis and is primarily used if molecular testing of DMPK does not identify the CTG repeat expansion and other myopathies are being considered.” (Thomas D. Bird).

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Fifth Disease also known as Erythema Infectious is a viral illness caused by the parvovirus B19. It is more common in children ranging from five to fifteen years of age than it is in adults. Most children will recover quickly without having any long lasting complications. Individuals may recognize the disease by the distinctive red rash that appears on the face that resembles a slapped cheek. Fifth disease has an incubation period ranging from four to fourteen days, however it can last as long as twenty days. Did you know that fifth disease gets its name for being listed number five on the list of historical classifications of common skin rash illnesses in children?

Family history is a big part in diagnosing a person with (DMD) since it’s a genetic disease. Patients with a family history of (DMD) can get a screening including fetuses in the womb. Genetic testing for these conditions in future pregnancies of an affected individual or parents of an affected individual can be done before birth through amniocentesis or chorionic villus sampling (Quercia). Amniocentesis is when doctors take fluid from the amniotic sack and test it for and chromosomal abnormalities. (The main trait that causes (MD) is the protein dystrophin. Women pass on the genetic disease and are the carriers. Women that are carriers of (DMD) can have mild symptoms but won't be affected as a much as a male would since females have an unaltered X chromosome. The most common mechanisms of mutation are deletions and duplications largely clustered in the “hot spot,” a DNA sequence associated with an abnormally high frequency of mutation or recombination (MD). The dystrophin gene defect is affecting males in two out of three cases due to the X-linked inheritance (MD). One third of the cases of the gene defect is due to the defect happening as a result of a mutation in the germ cells of parents (MD). Scientists also believe that since the mother is the carrier of (DMD) that the egg cell has a dystrophin gene

Erythema Infectiosum is called fifth disease. It is a mild illness caused by a virus. This virus most commonly occurs in children. The disease usually causes a bright red rash that appears on both cheeks. The rash has a "slapped cheek" appearance. Before the rash, the patient usually has a low-grade fever, mild upper respiratory symptoms, and a headache. One to three days after the cheek rash appears, a pink, lacy rash appears on the body, arms, and legs. This rash may come and go for up to 5 weeks. It often gets brighter following warm baths, exercise, and sun exposure. Your child may have no other symptoms or only a slight runny nose, sore throat, and very low fever. Complications are rare. This illness is quite