POMPE DISEASE Symptoms, Causes, Treatment, Diagnosis скачать в хорошем качестве

POMPE DISEASE Symptoms, Causes, Treatment, Diagnosis

(GLYCOGEN STORAGE DISEASE TYPE 2): Watch interesting diseases playlist:    • INTERESTING CONDITIONS, Medical video...   POMPE DISEASE (GLYCOGEN STORAGE DISEASE TYPE 2): Symptoms-Causes-Diagnosis-Treatment What is Pompe disease? Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid 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. Mutations in the GAA gene, which helps break down glycogen, cause this disorder. How long can you live with Pompe disease? Life expectancy for late-onset Pompe disease is currently estimated to be age 30 when it first appears in children or teenagers, and 50 years of age for adults. What are the signs and symptoms of Pompe disease? What are the symptoms of each type of Pompe disease? Weak muscles. Poor muscle tone. Enlarged liver. Failure to gain weight and grow at the expected rate (failure to thrive) Trouble breathing. Feeding problems. Infections in the respiratory system. Problems with hearing. How is Pompe disease diagnosed? While enzyme activity tests are the main diagnostic approaches when Pompe disease is suspected, genetic testing may also be requested. DNA analysis, based on a sample of blood or spit, can examine the GAA gene to determine mutations in a patient. Mutation analysis on a blood sample can confirm this diagnosis. Is Pompe disease curable? Unfortunately, no cure exists. However, Pompe disease has recently benefited from the introduction of enzyme replacement therapy (ERT), which, although expensive, is a major therapeutic advance How does Pompe disease affect a person's life? 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 What type of doctor treats Pompe disease? Because Pompe disease can affect many parts of the body, it's best to see a team of specialists who know the disease well and can help you manage your symptoms. This might include: A cardiologist (heart doctor) A neurologist, who treats the brain, spinal cord, nerves, and muscles. What is the cause of Pompe disease? Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). How do you treat Pompe disease? Enzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase (rhGAA). What type of mutation causes Pompe disease? Pompe disease, is an autosomal recessive lysosomal storage disorder due to mutations in the acid alpha-glucosidase (GAA) gene (MIM#606800) encoding the lysosomal GAA. How are lysosomes affected by Pompe disease? Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is deficient or absent. Deficiency of this lysosomal enzyme results in the progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected. Which organelle is affected by Pompe? Pompe disease is a lysosomal storage disorder where glycogen accumulates in cell structures called lysosomes, bags of about 50 different enzymes surrounded by a membrane similar to the cell membrane, which function as the digestive system for the cell. What chromosome is Pompe disease on? Pompe disease is a rare autosomal recessive disorder caused by mutations in an enzyme that degrades glycogen. The gene located on chromosome 17 Is Pompe disease a mitochondrial disease? Pompe disease (PD) is a progressive neuromuscular disorder that is caused by glucosidase acid alpha (GAA) deleterious mutations. Mitochondrial involvement is an important contributor to neuromuscular diseases. What is late onset Pompe disease? Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for pneumologists. Who gets Pompe disease? Since this is a genetic condition, the people who get this disease inherit it from a parent. It is common, however, that neither parent shows any symptoms. The disease is rare. In the United States, only 1 person in 40,000 is affected by Pompe disease. It can affect both males and females of all ethnic groups. #usmle #medicine #pompedisease