Yara and Isabella
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People with Pompe disease struggle physically and mentally. They have trouble with activities like sports and traveling due to muscle weakness and fatigue. Symptoms range from enlarged hearts in infants to severe muscle weakness and trouble breathing in adults. The disease is caused by a deficiency in the enzyme that breaks down glycogen in muscles. It is an autosomal recessive genetic disorder, so both parents must carry the defective gene for a child to be affected. The only approved treatment is enzyme replacement therapy.
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This document summarizes information presented by two public health nutrition students about Glycogen Storage Disease type 1 (von Gierke's disease). It defines GSD1 as a genetic metabolic disorder caused by an inability to break down glycogen into glucose. This puts patients at risk for hypoglycemia. The major forms are type 1a, caused by a deficiency in glucose-6-phosphatase, and type 1b, caused by a defect in glucose-6-phosphate translocase. Successful treatment requires maintaining normal blood glucose through frequent intake of complex carbohydrates. Left untreated, GSD1 can cause serious health issues; but with proper nutrition management, patients can experience normal growth and development.
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Insulin sensitivity.
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Diabetes mellitus.
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Starvation.
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Allelieh sma
Spinal muscular atrophy (SMA) is a genetic disorder that causes degeneration of motor neurons in the spinal cord, resulting in progressive muscle weakness. There are several types of SMA classified by age of onset and highest physical milestone achieved. Treatment focuses on maintaining respiratory and physical function through ventilation support, airway clearance techniques, and physical/occupational therapy.
spinal muscular atrophy sma by allelieh
Spinal muscular atrophy (SMA) is a genetic disorder that attacks motor neurons, causing muscle weakness and wasting. It is caused by a deficiency of the SMN protein due to mutations in the SMN1 gene. There are several types of SMA classified by age of onset and highest physical milestone achieved. Treatment focuses on maintaining function, mobility, nutrition, and respiratory health to maximize quality of life. While there is no cure, ongoing research into new drugs and therapies provides hope for modifying the course of the disease.
Glycogen storage disease
Glycogen storage disease is a rare genetic disorder that impairs the body's ability to process glycogen, the stored form of glucose. There are several types of glycogen storage disease caused by deficiencies in different enzymes involved in glycogen breakdown. The most common types are von Gierke disease (type I), Pompe disease (type II), and Cori or Forbes disease (type III). In type I, glycogen builds up in the liver due to a lack of an enzyme to convert glycogen to glucose, leading to low blood sugar and an enlarged liver. Type II affects multiple organs including the heart and muscles. Type III results from a deficiency in the debranching enzyme, causing glycogen to accumulate in the
Somatoform disorders[1]-SEC.A
Somatoform disorders involve physical symptoms that cannot be fully explained by a medical condition. Common symptoms include pain, nausea, and fatigue. Treatment focuses on developing a supportive patient-practitioner relationship and psychotherapy to help patients understand psychological factors contributing to their symptoms.
Lab3 gh disorder 2018
The document discusses growth hormone disorders including their causes, signs and symptoms, diagnostic evaluation and treatment. It provides details on conditions such as gigantism caused by excess growth hormone in children leading to abnormal growth. Dwarfism, caused by growth hormone deficiency, results in short stature. The case studies demonstrate examples of these disorders, with one case of acromegaly in an adult female and one of growth hormone deficiency in a child.
DM by DR.Hemant patil
Diabetes is a metabolic disease characterized by high blood sugar levels due to either the body not producing enough insulin or cells not responding properly to insulin. There are two main types of diabetes: type 1 diabetes results from autoimmune destruction of insulin-producing beta cells, causing insulin deficiency; type 2 diabetes involves insulin resistance and sometimes reduced insulin secretion, often associated with obesity and genetic factors. Common symptoms of diabetes include excessive thirst, hunger, fatigue, and frequent urination. Long-term complications can include damage to various organs systems like the heart, blood vessels, eyes, kidneys and nerves.
Prion disease
Prion diseases are rare neurodegenerative disorders caused by misfolded prion proteins. They affect both humans and animals. In cattle it is known as bovine spongiform encephalopathy (BSE) or "mad cow disease", and in humans it is known as Creutzfeldt-Jakob disease (CJD). Prion diseases occur when normal prion proteins misfold and induce other prion proteins to also misfold, triggering a chain reaction that causes damage to neural cells. There is no cure for prion diseases and diagnosis is difficult since prion proteins are similar to normal forms.
Orphan diseases and its management
this slide share will provide the information about orphan diseases and its management . this will give the introduction of orphan disease , what are drugs used for these diseases and how the diseases can be managed.
Similar to Yara and Isabella (20)
Pomps disease | genetic disorder |neuromuscular disease |GAA disorder
Pomps disease | genetic disorder |neuromuscular disease |GAA disorder
Yara and Isabella
- 2. The affected people struggle a lot with physical abilities so they have a hard time playing games, sports, arts, traveling, or even driving.
- 4. Normally have trouble sitting up and holding up their heads up.
- 5. Toddlers have trouble walking and normally waddle.
- 7. damages muscle and nerve cells throughout the body.Facts about Disease:
- 8. The disease is named after Johann Pompe.
- 10. Physical and occupational therapy can help relieve pain.
- 11. Lumizyme and Myozyme treatments that are effective!How People Get it:
- 12. Pompe disease is an autosomal recessive condition which means that each of the 2 parents of the affected individual must pass down that one mutated gene which makes it a very rare disease.