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

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.

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

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

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.

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 lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

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

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.

There are five main type of CMT: CMT1, CMT2, CMT3, CMT4, and CMTX. Each type is caused by a different mutation in the genes, and each type has multiple subtypes. CMT1 is the most common type of CMT, accounting for about two-thirds of all cases. CMT1A, the most common CMT1 subtype, is caused by a mutation in the PMP22 gene on chromosome 17, and CMTIB is caused by a change in the MPZ gene on chromosome 1; both lead to problems with the myelin sheath on nerves (Kedlaya). The more rare subtypes of CMT1 are CMT1C, CMT1D, CMT1E, and CMT1F. Moreover, CMT2, which causes direct damage to the nerve axon, is the second most common type of CMT, with CMT2A, the most common subtype, caused by a mutation in the MFN2 gene (Muscular Dystrophy Association). CMT4 is also caused by a defect in the myelin sheath, and a famous subtype of CMT4 is Dejerine-Sottas Disease, a very severe form of CMT. Lastly, CMTX is is caused by a mutation of connexin 32 of the X-chromosome (Kedlaya). Because females have two X-chromosomes, CMTX most often occurs in women. Overall, CMT is caused by mutations in over 80 different genes, depending on the type and

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)