pompe-disease. its definition-study. pptx

What Is Pompe Disease? Pompe disease is a rare genetic condition that causes muscle weakness that gets worse over time. It can have a serious effect on many of the body's systems. Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type II.

1. POMPE DISEASE CASE STUDY

2. Table of Contents 01 OVERVIEW Describe the topic of the section 02 FEATURES Describe the topic of the section 03 ASSIGNMENT Describe the topic of the section 04 THE TOPIC Describe the topic of the section

3. Summary of Disease Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset. The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life. The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood. The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure .

4. Who discovered Pompe Disease? In 1932 , Johannes Cassianus Pompe, a Dutch pathologist .

5. Pompe disease is a genetic disorder in which complex sugar called glycogen colagen disease (type II) it builds up in the body’s cells. The disease results from the deficiency of an enzyme called A cid alfa glucosidase (GAA), which breaks downs complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing them to break down. WHAT IS POMPE DISEASE?

6. Classic infantile-onset Non-classic infantile-onset Late-onset What are the types of Pompe disease?

7.  - a mutation of the GAA gene prevents the production of enough functional acid alpha-glucosidase (Acid maltase), and as a result lysosomes can’t break down glycogen. - This leads to a buildup of glycogen within the cytoplasm and lysosomes, The glycogen accumulation leads to myopathy / progressive muscle weakness, notably limb-girdle muscle weakness. - The myopathy may also cause respiratory distress, and Pompe disease often presents as exercise intolerance. How does Pompe disease affect the body?

8. POMPE DISEASE - Trouble breathing. - Feeding problems. - Infections in the respiratory system. - Problems with hearing. - Weak muscle - Enlarged liver SYMPTOMS - You get Pompe disease from your parents. To get it, you have to inherit two flawed genes, one from each parent. - You can have one gene and not have symptoms of the disease CAUSES - Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. - As the disorder progresses, breathing problems can lead to respiratory failure EFFECTS

9. Diagnosis Diagnosis includes blood test : Creatine Kinase - Check for general sign of muscular damage -It measures the acid alpha-glucosidase enzyme activity in either white blood cells or dried blood spot . Gene Sequencing -Asses the GAA gene -Not necessary -Electron Microscopy of muscle biopsies often show lots of glycogen in the cytoplasm and lysosomes. Electron Microscopy

10. treatment Enzyme Replacement Therapy -With a manufactured form of acid alpha-glucosidase called alglucosidase alfa -Alglucosidase alfa helps to remove the accumulated glycogen from the lysosome Supportive therapies - Mechanical Ventilation -Physical and Occupational Therapy -Feeding Tube

11.  What is right for one person is not necessarily right for another, so a nurse should be adaptable to that spectrum to provide to what a patient need.  Introduce the patient or the guardian to support groups and local Physical therapy clinics that will provide help and support with their physical and emotional needs.  Since a lot of Pompe patients are wheelchair dependent, often times they are made fun of and bullied. As their nurse we should show that being in a wheelchair is okay, it gives them a sense of uniqueness towards the community and showing that we are all equal. Recommendation