Werding Hoffman Disease

A student at Brandeis University in Waltham, Massachusetts named Mitch gaines a strong bond with his professor and mentor Morrie Schwartz. Mitch and Morrie’s father son like bond allows them to learn the most from each other. Every Tuesday, Morrie held a class at his house in his bedroom the class was not graded, nor were any papers ever assigned only oral exams at the end of a cirriculum chapter. In the next chapter Mitch discusses how his professor was diagnosed with ALS a.k.a. Lou Gherigs Disease and was only given two years to live and died in 1994. After reading the excerpted passages chapters one through two, I have found that the chapters are more less an introduction to Mitch’s life rather than a detailed account of said time periods.

Spinal Muscular Atrophy is classify as an interneuron abnormality and loss of the anterior horn cells in the spinal column. SMA is categorized into three subtypes with the classification embedded on the motor milestone achieved. Spinal type I (Werdnig-Hoffman disease) child is to weak that they never learn to sit, type II child learn to sit but never learn to walk without assistive device, and type III (Kugelberg-Welander disease) child can walk independently (Tecklin, 2015).

The role of a geneticist is multifaceted and dynamic; challenging yet rewarding. In his book Genetic Rounds, Dr. Robert Marion captures the essence of what constitutes the daily life of a pediatric geneticist. His book includes his personal reflections of cases that seemed to have left a profound impact on him. Some stories focus on the puzzle solving aspect of his cases, while others are essentially about the ethical dilemmas involved with his patient care. In this essay, I will research and describe four of the disorders mentioned in the book and elaborate on the most recent diagnostic and treatment options available for one disorder in particular: spinal muscular atrophy (SMA).

Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

According to the National Hemophilia Foundation (.n d.), people with VWD experience recurrent nosebleeds, easy bruising and extreme bleeding for the duration of and after invasive procedures, such as tooth removals and surgery. Women often experience menorrhagia, heavy menstrual periods that last lengthier than usual, and hemorrhaging after giving birth. The signs and symptoms depends on the severity of the 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.

Hirsch sprung disease is a disease that shows several Signs and symptoms. Approximately more than 75% of children with Hirsch sprung disease show symptoms in the beginning of six weeks of their lives. Newborns frequently begin showing symptoms with in the earliest 24 to 48 hours of life. the most common signs and symptoms infants may experience during Hirsch sprung disease are as the following: Not having a bowel movement in the first 48 hours of life, gradual swelling of the belly, gradual onset of vomiting, fever, sepsis (overwhelming infection), growth failure, refusal to feed, easily palpable fecal mass, foul smelling stool, constipation or a condition in which there is difficulty in emptying the bowels that usually associated with hardened feces that worsens over time, and Small watery stool( Cincinnati children's hospital,2017)

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

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?

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.

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.

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

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.