What is Pompe Disease? Pompe disease is a genetic disorder which deals with a mutation within a gene called the GAA gene, glucosidase, alpha; acid, and produces an enzyme to produce a buildup of glycogen, a complex sugar, within body cells which cause the lysosomes to not reuse the sugar properly. The name of this enzyme is called alpha-glucosidase, more commonly known as acid maltase. The GAA gene is located on Chromosome 17 on the q arm between the positions 25.2 and 25.3 (GAA, paragraph 4). A GAA gene is used to make normal acid maltase which breaks down the glycogen into glucose, a simple sugar molecule. Lysosomes are used to digest, or break down, proteins and sugars for energy. There are different mutations of this gene which causes the disease of Pompe in people. (GAA, paragraph 3) Some of these mutations consist of the alteration of the protein building block, the destruction or inserting of the genetic information located within the GAA gene. What does Pompe do? Pompe impairs the normal functioning of different tissues, muscle and organs, mostly muscles. Pompe has been known for three forms of classifications. “These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset” (Pompe disease, paragraph 2). Classic infantile-onset is where infants, within a few months of life, obtain this disease. The baby becomes frail and small because of them not gaining weight and under the normal growth level. Some of the symptoms include “muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects” (Pompe disease, paragraph 3). If the disease is not treated immediately then death is cause by the failure of the heart. Non-clas... ... middle of paper ... ...Johnson, P., & Blachford, S., Ed. (2010). Pompe disease. In Gale encyclopedia of genetic disorders. Retrieved from Gale Student Resources in Context database. (Accession No. ZHFSNC075777404) NINDS pompe disease information page. (2013, February 20). Retrieved January 14, 2014, from National Institute of Neurological Disorders and Stroke website: http://www.ninds.nih.gov/disorders/pompe/pompe.htm Pompe disease. (2014, January 13). Retrieved January 18, 2014, from Genetics Home Reference website: http://ghr.nlm.nih.gov/condition/pompe-disease The successful effort to develop myozyme® and bring new hope to families affected by pompe disease. (2014). Retrieved January 26, 2014, from Genzyme website: http://www.genzyme.com/promos/pompe-movie.aspx United pompe foundation. (2014). Retrieved January 14, 2014, from United Pompe Foundation website: http://www.unitedpompe.com/
Flaccid dysarthria results from damage to the lower motor neurons (LMN) or the peripheral nervous system (Hageman, 1997). The characteristics of flaccid dysarthria generally reflect damage to cranial nerves with motor speech functions (e.g., cranial nerves IX, X, XI and XII) (Seikel, King & Drumright, 2010). Lower motor neurons connect the central nervous system to the muscle fibers; from the brainstem to the cranial nerves with motor function, or from the anterior horns of grey matter to the spinal nerves (Murdoch, 1998). If there are lesions to spinal nerves and the cranial nerves with motor speech functions, it is indicative of a lower motor neuron lesion and flaccid dysarthria. Damage to lower motor neurons that supply the speech muscles is also known as bulbar palsy (Pena-Brooks & Hedge, 2007). Potential etiologies of flaccid dysarthria include spinal cord injury, cerebrovascular accidents, tumors or traumatic brain injury (Pena-Brooks & Hedge, 2007). Possible congenital etiologies of flaccid dysarthria include Moebius syndrome and cerebral palsy. Flaccid dysarthria can also arise from infections such as polio, herpes zoster, and secondary infections to AIDS (Pena-Brooks & Hedge, 2007). Additionally, demyelinating diseases such as Guilian-Barre syndrome and myotonic muscular dystrophy can also lead to flaccid dysarthria (Pena-Brookes & Hedge, 2007). The lower motor neuron lesion results in loss of voluntary muscle control, and an inability to maintain muscle tone. Fasciculations, or twitching movements, may occur if the cell body is involved in the lesion (Seikel et. al., 2010). The primary speech characteristics of flaccid dysarthria include imprecise consonant production, hypernasal resonance, breathiness, and harsh voice (...
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
WORLD HEALTH ORGANISATION, 1997. Tabular list of neurological and related disorders. In: WORLD HEALTH ORGANISATION, ed. Application of the International Classification of Diseases to Neurology. Canada: World Health Organisation, p. 153.
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
Office of Communications and Public Liaison . "NINDS Sandhoff Disease Information Page." National Institute of Neurological Disorders and Stroke (NINDS). National Institute of Health, 6 Oct. 2011. Web. 14 Feb. 2014. .
Progeria causes the child to have the physical characteristics of an old person. The first time it is visible that something is wrong is the age of one- or two-years-old. It mainly affects the cardiovascular system. It not only affects the cardiovascular system but also the skin and appearance. That is why at age ten they look and have the cardiovascular problems of an eighty year old.
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
Retinitis pigmentosa can be caused in a person in numerous ways. It normally runs in families, however, it can also be caused from a mutation. We believe my grandmother developed the disorder from a genetic mutation, as no one else in my family has ever had the disorder or has developed it as of...
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
What are the risks and limitations of genetic testing?. (2014, April 21). Genetics Home Reference, Retrieved from http://ghr.nlm.nih.gov/handbook/testing/riskslimitations
muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.
FCCMG, and Andre Mattman, MD, FRCPC. "Primer on Mitochondrial Disease: Biochemistry, Genetics, and Epidemiology." British Columbia Medical Journal 53.4 (2011): 172-76. BC Medical Journal. Web. 18 Apr. 2014. .
NIH, National Center for Biotechnology Information. (2015). Cyclothymic Disorder, ncbi.nlm.nih.gov Web. 22 July 2015. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002517
According to Ralf Sudbrak and other authors, a mutation in the gene ATP2C1 is associated with the cause of the Hailey-Hailey Disease. The disease is an autosomal dominant inherited skin disorder. The defect in the gene alters the expression of calcium pumps thus altering calcium signaling and their role in maintaining the epidermis (Sudbrak et al. 1). The gene encodes a protein that acts as a calcium pump in cells. This protein pumps calcium ions into the lumen of the Golgi apparatus. Calcium ions are vital in cell-to-cell adhesion processes and differentiation, and if the calcium pump does not function properly, the affected cells will not stick together, thus causing damage to the skin (Szigeti 1). The protein encoded by ATP2C1 has the same transmembrane organization, including all the conserved domain characteristics like ATP binding, phosphorylation, and conformational changes enzymes, of Phosphorylation-type (P-Type) ATPases (Sudbrak et
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...