According to American Journal of Neuroradiology (2002), leukodystrophy is a progressive disease of myelin sheath in which a genetically determined metabolic defect results in confluent destruction, or failed development, of central white matter. Most leukodystrophies are autosomal recessive or X-linked recessive with onset in early childhood. Dominantly inherited leukodystrophies with onset in adulthood are rare (http://www.ajnr.org/content/27/4/904.full#xref-ref-1-1).…
Studies investigating the basic molecular defect causing ADA deficiency were originated when genetic categorizations encoding human ADA were isolated. Using these “clones,” investigators have been able to study and compare the ADA enzyme from ADA-SCID patients with the normal or wild-type ADA enzyme. The most commonly mentioned numeral for the occurrence of SCID is around 1 in 100,000 births, though this is viewed by some to be a miscalculation of the true commonness; some estimates expect that the frequency rate is as high as 1 in 50,000 live births. A numeral of about 1 in 65,000 live births has been reported for Australia. Due to the genetic nature of SCID, a higher prevalence is found in areas and cultures among which there is a higher rate of consanguineous mating. A study conducted upon Moroccan SCID patients reported that inbreeding parenting was observed in 75% of the…
Duchenne muscular dystrophy also known as DMD is a rare genetic condition that could affects all race and cultures; mostly boys. Duchenne muscular dystrophy affects 1 in 500 boys in approximation. According to muscular dystrophy association 20,000 children are born with DMD worldwide and approximately, 35% are as a result of spontaneous genetic mutation (2014). The disease is an X-linked recessive inheritance that the mother passed it on. DMD has a progressive muscular degeneration and weakness and it is one of the nine types of muscular…
ALX is caused by a mutation in the GFAP (Glial fibrillary acidic protein) gene on chromosome 17. Molecules of this protein bind together to form intermediate filaments which are used to support and strengthen cells. The mutation causes a structural alteration in GFAP which impairs the formation of normal intermediate filaments and they collect in cells called astrocytes. Astrocytes are non-neuronal glial cells that provide biochemical support to endothelial cells that form the blood-brain barrier, provide nutrients for nervous tissue and maintenance of extracellular ion balance etc. This leads to the formation of Rosenthal fibers in the astrocytes, abnormal clumps of GFAP. Therefore no nutrients are provided to the oligodendrocytes and as a result myelin is slowly degenerated.…
Duchenne Muscular Dystrophy is a dangerous and rare disorder. It’s transferred through family generations because it’s a genetic disease. In addition, Duchenne Muscular Dystrophy is referred to by other names including DMD, Duchenne Syndrome, and Pseudohypertrophy. DMD is when the body cannot make dystrophin so it results in muscle weakness.…
Alzhimer's disease is a form of dementia, it is a slow progressive disease that is caused the loss of neurotransmitters such as acetylcholine, which leads to damaged and death of cholinergic neurons in the brain. This then causes a build up in the brain of amyloid plaques (a protein called amyloid) and tangles (a protein called…
Adrenoleukodystrophy is a deadly genetic disorder that affects mostly boys and men. ALD is determined when the myelin sheath that surrounds the neuron is deteriorated, damaged or simple not formed, and it is not carrying properly the neurological messages that sends the brain to the body, because there is an accumulation of saturated very long fatty acids as an immune response, our body stops moving or responding as a consequence.…
Duchenne Muscular Dystrophy is “an X-linked disease of muscle caused by an absence of the protein dystrophin” (Dr. Sussman). The disease affects young boys. If a boy…
Alzheimer's disease-Alzheimer's disease (AD) is a progressive, neurodegenerative disease characterized by memory loss, language deterioration, impaired ability to mentally manipulate visual information, poor judgment, confusion, restlessness, and mood swings.…
Adrenoleukodystrophy is a life changing health condition that is passed down from mother to son if the mother was a carrier of ALD. This disease is full of horrible symptoms that cause the young child a lot of pain.…
It is caused by getting passed down from parents. HD results from genetically programmed degeneration of nerve cells, called neurons, in certain…
MD is caused by gene mutations that are particular to each form of the disease. It is an X-linked disease, meaning mothers are the carriers of the disease.…
1.What is the Glasgow Coma Scale? The Glasgow Coma Scale (GCS). The GCS is an objective assessment that defines the level of consciousness by giving it a numeric value…
a. What impact do you think Alzheimer’s disease has on the patient’s family and/or caregivers?…
The following paper focuses on Alzheimer’s disease, the disease which is a devastating brain disease and is one of the most typical forms of dementia, a general term that is most commonly used for memory loss and the diminishing in mental and physical abilities. It is most frequently diagnosed in the elderly although there have been some cases of the disease affecting people of middle age. There is not one known single cause for Alzheimer 's, however, scientists believe that due to the structural and chemical changes in the brain eventually gradually destroy brain cells thus effecting reasoning, learning and memory. If it continues to advance, the result is body failure. The disease affects the body in different stages, and as the stages become higher the symptoms become worse. Though the disease is incurable there are medications that can keep symptoms under control, and help the individual maintain a regular lifestyle.…