Pompe Dichotomy

2. The typical microscopic changes noted in the muscle tissue of someone with Duchenne’s muscular dystrophy is degenerating skeletal muscle cells. Surrounding these muscle cells is a large amount of endomysial connective tissue that is proliferating. A large number of macrophages can be seen whose responsibility is to eliminate cellular debris. Some muscle cells (fibers)

Otherwise known as G6PD deficiency, people with an extreme case of this illness would experience hemolytic anemia, fever, and fatigue after eating fava beans or take drugs like primaquine. This is due to the fact that people with favism lack sufficient amount of the enzyme G6PD, which is important for protecting cells from chemical elements that would otherwise destroy the cells. The substances mentioned above act as the catalysts for the production of free radicals (un-paired electrons). As these un-paired electrons seek to pair with electrons in red blood cells with deficient amount of G6PD, it causes the cell membranes to burst. The loss of red blood cells when left untreated can cause the person to have kidney failure, heart failure, and death. As of now, there is no treatment for G6PG

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

This disease affects the nervous system. To affect this system it destroys the nerve cells in the brain and spinal cord. When the muscles have no nourishment in the muscles they slowly waste away.

Amyotrophic Lateral Sclerosis, also known as Lou Gehrig’s disease, is a progressive and degenerative neurological disorder that affects the cells in both the brain and the spinal chord and has affected nearly twelve to twenty thousand people, according to Moglia and Margolis (2017). This disease may have a great affect on the musculoskeletal system, the nervous system, as well as the respiratory system. Initially, there is no actual known cause to this disease; however, researchers may have an idea of what may play a possible role including genes. In addition, there are a number of symptoms that may also be experienced in patients with Lou Gehrig’s disease including “slurred speech, weakening grip, clumsiness/unsteadiness, and weakened limbs,” (Moglia &

Inclusion Body Myositis ,or IBM, is one of many muscle diseases known as inflammatory myopathies, which causes slowly progressing muscular atrophy and weakness(NINDS IBM ,2014,para 1). Let it be known that in this paper, I shall define IBM, give it’s symptoms and signs, as well as whether or not it is related to birth defects, trauma or age related pathology. A prognosis and diagnosis , for said disease, will be given ; as well as , whether or not it is treatable. I will also mention the research being conducted on IBM.

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.

Lou Gehrig’s Disease or Amyotrophic Lateral Sclerosis (ALS) is a collection of rare neurological diseases that affect the motor neurons that control the voluntary muscle movements. ALS is a progressive neurodegenerative illness that affects the nerve cells in the brain and spinal cord. ALS is a disease that belongs to a wider group of disorders that are known as motor neuron diseases. This is caused by gradual deterioration and the death of motor neurons. ‘Amyotrophic’ comes from the Greek roots that mean ‘without nourishment to muscles’. ‘Lateral’ means ‘to the side’ and refers to the position of the destruction in the spinal cord. ‘Sclerosis’ means the hardening of the spinal cord.

Amyotrophic Lateral Sclerosis (ALS), also knows at Lou Gehrig’s diseases is a motor neuron disease that affect the motor system specially the anterior motor horn cells, corticobulbar/corticospinal tracts, and motor cranial nerves. ALS is a fatal and the causes are unknown. A small percent of the ALS patients are known to have familial amyotrophic lateral sclerosis. ALS causes severe muscle atrophy since the neuron cell connections to the muscle are lost. After many studies the scientist were able to find evidence that imply that the skeletal muscle tissue is the principal target of ALS toxicity. Until today the pathophysiological mechanism of both familial and sporadic ALS are unknown. After many years of research the scientific community was

Another disease explained is G6PD deficiency is a hereditary enzyme disease. Also known as favism, signs of G6PD deficiency are yellowing of the skin, dark urine, fatigue, rapid breathing, and a weak, fast pulse. G6PD - an acronym for glucose-6-phosphate dehydrogenase - is found to be in every cell, and is a necessary component in red blood cells for protection. The function of the G6PD is to prevent free radicals, an atom with unpaired electrons, from killing red blood cells by eliminating them. Thus, to have G6PD deficiency means that red blood cells are vulnerable to free radicals, and the patient is prone to hemolytic anemia: when red blood cells die off too quickly, and the body is unable to produce them fast enough to replace them. If

Rather than using existing information on people with Pompe, they made a questionnaire and got about 255 people to share their information. Information such as whether or not they used a wheelchair, respiratory support, or nutritional support. Along with other things, they also gathered their ages, and this was all used to study the “relationship between disease severity, age, and disease duration”.

1. In terms of progressive weakness and degeneration of muscles one group of disorders is being connected from it and that disorder is called Muscular Dystrophy. It is said to be caused by mutations on the X chromosome and due to not being able to produce a protein called Dystrophin that plays a vital role in building and repairing muscles that cannot function properly. The said protein aids various elements within muscle cells together and bonds them all to the outer membrane or the sarcolemma. Without the presence of dystrophin, disruptions transpire in the sarcolemma results to weakening of muscles and may cause damage to the muscle cells.

What Pompe disease is. - An autonomic receive genetic inherited disorder, which is caused by the accumulation of a glycogen in the body’s, body’s cells. The accumulation of glycogen in the muscles tissues can damages their cells by affecting their ability to function properly or not function at all.

The disorders caused by lipid metabolism enzyme deficiency is due to the metabolite accumulation in the cell and parts of the bodies. The major diseases are Gaucher’s, Fabry’s, Tay-Sachs and Niemann-Pick disease. Gaucher’s occurs due to the accumulation of glucocerebrosidase leading to neurological phenotype in some cases and enlarged liver and spleen and bone abnormalities in other cases. Tay- Sachs involves the buildup of gangliosides in tissues, which leads to intellectual disabilities, dementia, paralysis and blindness in different cases. Neimann-Pick involves the buildup of sphingomyelin, leading to neurological issues. Fabry’s involves accumulation of glycolipids in tissues, leading to poor vision, kidney failure or heart failure,

Pompe’s disease is a glycogen storage disease caused by mutation in a gene coding for the acid 1-4 alpha-glucosidase (GAA), the key enzyme in glycogenolysis within lysosomes. GAA deficiency results in accumulation of glycogen and successive enlargement of lysosomes. As the lysosomes enlarge, there is also accumulation of other related byproducts, overtaking the space regularly occupied by myofibrils and impeding their function (Lewandowska E et al., 2008). Individuals with a complete loss of GAA activity usually do not live past the age of 2, usually dying from heart failure (Hesselink RP et al., 2003)(Sun B et al., 2015). Individuals with incomplete loss of GAA activity, or late-onset Pompe disease, typically survive until