Dr Marie Tooth Dystrophy ( Cmt ) Is A Disease That 's Unrecognized Among The Public

What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?

Prior to identification of vCJD, the widely known human TSE, Creutzfeldt-Jakob disease (CJD), had been thought to have only three forms of existence, (National Institute of Neurological Disorders and Stroke, 2012). The first form was Iatrogenic CJD, caused by accidental transmission by contaminated surgical equipment or the administration of human-deprived pituitary growth hormones or from corneal or meningeal (dura mater) though this always account for less than 5% cases of CJD. The second form is familial CJD, which has been linked with gene mutation, though as well form still smaller percentage of 5-15% cases of CJD. The last form is sporadic CJD, which has been identified to be occurring all over the world at the rate of one per million people, and has the highest number of CJD cases falling under the range of 85%.

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

The National Organization for Rare Disorders (NORD) says that MSUD happens to males and females at the same rate. The risk of having any form of MSUD depends if your parents have this disorder or not. If both of the parents have the disorder, each child has a 25 percent chance of getting two mutated genes and getting MSUD, the child would have a 50 percent chance from getting one normal gene from each parent. The parent or parents are not able to pass on the gene to their children if they have two normal genes for MSUD. (Healthline,

Mucopolysaccharidosis type 2 also known as Hunters Syndrome. This condition affects many different parts of the body and occurs in males. It occurs only in the males because this condition is inherited in an X linked recessive pattern. Males have one X chromosome and females have two. So it affects males. The exception is MPS 2 in which the mother alone passes along the defective gene to a son.

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.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

In most cases of Cri du chat the syndrome isn’t inherited. The chromosomal disorder usually occurs because of a random event during the formation of reproductive cells (eggs or sperm) or during early development. People with cri du chat typically don’t

Before we can begin to discuss the reasons that the disorder is more commonly diagnosed in men,

What is Kennedy’s Disease? Kennedy’s disease is an inherited neurodegenerative disorder that affects both the spinal and bulbar neurons. KD is a lower motor neuron disorder because it interrupts the transmission of nerve cell signals in the brain and spinal cord. This interruption affects the spinal and bulbar neurons causing the major symptoms muscle atrophy, weakness, contraction fasciulations, and bulbar weakness. KD is the first of the neurodegenerative disease for which the molecular basis was discovered to be the expansion of a trinucleotide CAG repeat in the causative gene (Banno, 2012, p.313). The disease is inherited from an impaired x gene. Since KD is a recessive X- linked gene it primarily affects males. Females are rarely affected because they have two X chromosomes and are usually just carriers of the defective gene. The carriers of the gene are usually asymptotic but occasionally can develop mid symptoms. (Cell and Tissue Research, 2012, p. 13)

These include motor neuron disease, corticobasal syndrome, progressive supranuclear palsy and FTDP-17 (FTD with parkinsonism linked to chromosome 17).

Multiple Sclerosis is a disabling autoimmune disease that basically attacks the protective sheath of our myelin. The myelin surrounds the nerve fibers and helps orchestrate impulses that our sent to our spinal cord and brain otherwise known as the central nervous system. People who are diagnosed with MS have damaged or inflamed myelin around the nerves causing poor conduction where the impulses are either weakened or lost. With the damaged myelin protective coating, the nerves are then more vulnerable to attack from the immune cells. As we know, immune cells protect the body from foreign substances such as bacteria or viruses. This neurological disease typically manifests in young people between the ages of 20-40 years old. MS is predominately diagnosed in woman more than men and also in Caucasians verses any other races. MS not only affects our ability to walk and talk, but our breathing even relies on proper functioning of the CNS. This disease deteriorates our myelin and is irreversible. Some people diagnosed with MS go long periods in remission while others eventually die.

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

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.