Feeling weak in the legs, trunk, and arms Shortness of breath, a hard time exercisingand lung infections Trouble breathing while you sleep A big curve in your spine Enlarged liver Stiff joints Getting a Diagnosis Many symptoms are similar to other medical conditions.
What Is Pompe Disease?
Pompe disease is a rare genetic disease characterized by the abnormal buildup of a sugar molecule called glycogen inside cells. This buildup impairs the working of different organs and tissues, especially the heart, respiratory, and skeletal muscles. Causes Glycogen is a form of sugar that the body stores in cells of the liver and skeletal muscles, and works as a long-term reserve of energy.
When the body needs energy, this large molecule is broken down into smaller molecules of a simpler sugar called glucose. One of these enzymes is the acid alpha-glucosidase GAA. In either case, glycogen cannot be broken down and builds to toxic levels inside cells, impairing certain organs and systems, particularly the muscles.
Inheritance Pompe disease is inherited in an autosomal recessive pattern.
This means the disease only develops in people who inherit two faulty copies of the gene, one from each parent. People with only one faulty gene do not show disease signs or symptoms. They are called carriers because they can pass the disease onto their children.
When both parents are carriers, there is 25 percent chance that a child will inherit both mutated copies of the gene and develop Pompe disease. Likewise, this child has 50 percent chance of inheriting one mutated gene and also becoming a carrier, and a 25 percent chance of inheriting two healthy genes and neither developing the disease nor being a carrier.
Late-onset Pompe disease may begin anytime from late childhood to adolescence, or even in adulthood. Symptoms include a slower growth rate often due to feeding problems ; muscular weakness; poor muscle tone hypotonia ; poor or absent reflexes; difficulties breathing, moving, and swallowing; and an enlarged tongue, liver, and heart.
Non-classical infantile Pompe disease is less common, and damage to heart muscle progresses more slowly in these babies. The late onset form of Pompe disease is found in about two-thirds of all patients. It is milder because it is due to only a partial lack of the GAA enzyme.
Symptoms include slow but progressive muscular weakness, particularly of muscles in the legs, trunk, and respiratory system, motor difficulties, breathing problems, fatigue, abnormal curvature of the spine. Life expectancy can be affected, but disease prognosis is highly variable among individuals.
Differential diagnosis is important since Pompe disease may be wrongly assumed to be a different chronic and muscle-wasting disease. In children with infantile-onset Pompe disease, the activity of the GAA enzyme is less than 1 percent.
In individuals with the late-onset form of this disease, GAA activity is typically lower than 40 percent.
Prenatal diagnosis may be available for couples with a child affected by the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment.
Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.Jun 01, · Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder.
While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start.
Pompe disease, also known as Glycogen storage disease type 2 is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the urbanagricultureinitiative.com enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures.
Symptoms of late-onset Pompe disease Children and adults with late-onset Pompe experience muscle weakness, primarily affecting muscles such as the shoulder muscles, and the muscles of the upper arms and legs, with .
Continued What to Expect. 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.
Pompe disease is a rare, inherited neuromuscular disorder. It’s caused by a shortage of the enzyme that processes glycogen in the body.
Without this enzyme, glycogen builds up in muscle, tissue. Pompe disease is a genetic disease that occurs when there is not enough or not any of the enzyme called alpha-glucosidase. An enzyme is a protein that causes a specific chemical change within the body.