Pompe disease

Symptoms

What are the main symptoms of Pompe disease?

Pompe disease is caused by a missing enzyme in the lysosomes, which are like the recycling center of the cell. Missing this enzyme leads to build up of glycogen in muscle cells which damages the muscle cells. Muscle cell damage leads to weakness of the muscles needed to move the body (skeletal muscles), pump the heart (cardiac muscles), and move the lungs for breathing (respiratory muscles). The weakness gets worse over time.

In infantile onset Pompe disease (IOPD), the symptoms can start in the newborn period or even before a baby is born. The heart gets bigger than it is supposed to be and has more trouble pumping blood, called cardiomyopathy.

In late onset Pompe disease (LOPD), the heart is usually not involved, but the muscles the body uses to help the lungs move air in and out of the body (the diaphragm) becomes weak. Patients have slowly progressing symptoms and may not recognize they are somewhat unsteady on their feet, have trouble getting out of a chair into a standing position, even holding a blowdryer to dry your hair. Often it's a loved one or someone close to a patient that may recognize the symptoms. Muscles affected first are those proximal (closest to the body) and then weakness travels to distal muscles (further away from the body). Shoulders, upper arms, pelvic area, and thighs are often first affected. Limb girdle muscles involving the pelvic and thighs are most often affected.

The only currently available treatment for either IOPD or LOPD is enzyme replacement therapy, in which a man-made version of acid alpha-glucosidase is infused into the body through a vein every two weeks. Over time, this enzyme breaks down the glycogen which has built up. It helps the heart get smaller and work better in IOPD. It helps people with IOPD and LOPD get better muscle strength. However, enzyme replacement therapy must be given every 2 weeks for the rest of a person's life. Other treatments are being studied in clinical trials as well.

Babies with Pompe disease are often diagnosed based upon the symptoms seen at birth, but later onset Pompe disease may be more difficult to diagnose and require the involvement of multiple doctors who specialize in areas such as neurology (the nervous system) and metabolics (how the body turns food into energy). The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

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More Symptoms Content

Are there earlier onset, later onset, or variant forms of Pompe disease?

What health problems should I look for in Pompe disease?

Are there any other diseases that look a lot like Pompe Disease?

Is there an unusual symptom of Pompe disease?

Is there a variable expression in Pompe disease?

What are the cardiac problems in Infantile onset Pompe disease?

What are the lung problems in Infantile onset Pompe disease?

What are the lung problems found in Late onset Pompe disease?

What are the problems with eating and digestion in infantile Pompe disease?

What are the problems with eating and digestion in late onset Pompe disease?

Do children with Pompe disease have learning problems?

Are there earlier onset, later onset, or variant forms of Pompe disease?

Pompe disease has an early onset, severe form called infantile onset Pompe disease (IOPD) and a later onset form, called late onset Pompe disease (LOPD). A person has IOPD when they have no acid maltase (also known as acid alpha-glucosidase) enzyme function and are born with muscle weakness and a larger than normal heart.

When a person has LOPD, they have a little enzyme function. Symptoms of LOPD can start anywhere from 1 year of age to anytime in adulthood. People with LOPD usually do not develop a large heart (cardiomyopathy). Some changes in the gene (called mutations or variants) causing Pompe disease, GAA, are known to be severe and some are known to be milder. Individuals with Pompe disease will typically have two different mutations. If one of these mutations is milder (regardless of whether or not the other one is mild or severe), they usually have LOPD.

Babies with Pompe disease are often diagnosed based upon the symptoms seen at birth, but later onset Pompe disease may be more difficult to diagnose and require the involvement of multiple doctors who specialize in areas such as neurology (the nervous system) and metabolics (how the body turns food into energy). The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

References
What health problems should I look for in Pompe disease?

The health problems associated with Pompe disease include profound muscle weakness and breathing problems. In infantile (severe) Pompe disease, babies also develop a very big, weak heart which is a condition called cardiomyopathy. In late onset Pompe disease (LOPD), the heart is usually not involved, but the muscles the body uses to help the lungs move air in and out of the body (the diaphragm) becomes weak. Adults may find that it's difficult to get out of a sitting position to a standing position without having to walk up the legs with the hands.

Without treatment, these symptoms get worse, causing problems with walking, sleeping, swallowing, and breathing. Intelligence is not usually affected by Pompe disease, meaning that people who have Pompe disease do not usually have any learning problems. Individuals with Pompe disease may also experience difficulty chewing, have muscle pain, and get respiratory tract (the lungs and airways) infections.

Babies with Pompe disease are often diagnosed based upon the symptoms seen at birth, but later onset Pompe disease may be more difficult to diagnose and require the involvement of multiple doctors who specialize in areas such as neurology (the nervous system) and metabolics (how the body turns food into energy). The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

References
Are there any other diseases that look a lot like Pompe Disease?

Infantile onset Pompe disease (IOPD) can be mistaken for other forms of muscle diseases that are present in newborns such as Spinal Muscular Atrophy (SMA), Congenital Disorders of Glycosylation (CDG), Congenital Muscular Dystrophy, Prader-Willi syndrome, or mitochondrial disease. Newborns with these conditions all have very weak muscles and may have breathing problems. They usually do not (but can) have very large hearts like in IOPD. Babies with Pompe disease also have a tell-tale sign on the electrocardiogram (EKG or ECG, a reading of the heart's electrical activity) of their heart called a shortened P-R interval.

Late onset Pompe disease (LOPD) is often misdiagnosed as other forms of muscular dystrophies (diseases where muscles get weaker over time), most commonly Limb Girdle Muscular Dystrophy (LGMD) because the symptoms are very similar. In both LOPD and LGMD, affected people start having muscle weakness in the upper arms and upper legs so the way they walk can look similar. People with LOPD can also have abnormally high liver function blood tests (markers called AST and ALT) which get mistaken as liver disease. The abnormal blood test is actually caused by the muscles breaking down. It is important to make the right diagnosis of Pompe disease, because unlike some of these other conditions, treatment is available to help make the muscles stronger or at least slow down the rate at which the muscles grow weaker. The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

References
  • Pompe disease on Gene Reviews
  • Preisler et al article (2013): "Pompe disease is prevalent in unclassified limb-girdle musculardystrophies" : http://www.ncbi.nlm.nih.gov/pubmed/24011652
  • Lisi EC, Cohn RD. Genetic evaluation of the pediatric patient with hypotonia: perspective from ahypotonia specialty clinic and review of the literature. Dev Med Child Neurol. 2011 Jul;53(7):586-99.
Is there an unusual symptom of Pompe disease?

Pompe disease causes weakness in the muscles used for moving the body, breathing, and swallowing. Sometimes the muscles of the heart are also affected. In newborns, the muscle weakness can be mistaken for other diseases that cause muscle weakness, but these other conditions usually do not cause a larger than normal heart with an enlarged left ventricle (one of the four chambers of the heart). Babies with infantile onset Pompe disease usually have a tell-tale sign on the electrocardiogram (EKG or ECG, a reading of the heart's electrical activity) of their heart called a shortened P-R interval. In babies with muscle weakness and a large heart, Pompe disease should be one of the first things that the doctors test for.

Babies with Pompe disease are often diagnosed based upon the symptoms seen at birth, but later onset Pompe disease may be more difficult to diagnose because the symptoms are more general. The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

References
  • Pompe disease on Gene Reviews
  • Lisi EC, Cohn RD. Genetic evaluation of the pediatric patient with hypotonia: perspective from ahypotonia specialty clinic and review of the literature. Dev Med Child Neurol. 2011 Jul;53(7):586-99.
Is there a variable expression in Pompe disease?

Pompe disease is variable in that symptoms can start anywhere from before birth to anytime in adulthood. A baby with infantile onsent Pompe disease (IOPD) has no acid maltase enzyme function and are born with muscle weakness and a larger than normal heart. When a person has late onset Pompe disease (LOPD), they have a little enzyme function. Symptoms of LOPD can start anywhere from 1 year of age to anytime in adulthood. People with LOPD usually do not develop a large heart (cardiomyopathy). Some changes in the gene (called mutations or variants) causing Pompe disease, GAA, are known to be severe and some are known to be milder. Individuals with Pompe disease will typically have two different mutations. If one of these mutations is milder (regardless of whether or not the other one is mild or severe), they usually have LOPD. At this time, we have not yet been able to determine when exactly symptoms will start or how fast they will progress.

Babies with Pompe disease are often diagnosed based upon the symptoms seen at birth, but later onset Pompe disease may be more difficult to diagnose and require the involvement of multiple doctors who specialize in areas such as neurology (the nervous system) and metabolics (how the body turns food into energy). The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

References
What are the cardiac problems in Infantile onset Pompe disease?

The most common cardiac issues in infantile onset Pompe disease (IOPD) include cardiomyopathy (heart disease), heart failure, and arrhythmias (irregular heartbeat). Cardiomyopathy happens because of the buildup of glycogen in the cells of the heart muscle which makes the heart get bigger than it is supposed to be (hypertrophy). The buildup of glycogen also leads to conduction problems that can be seen on an electrocardiogram (ECG or EKG). These conduction problems should be treated with medication or a specific procedure called ablation because they can lead to serious health problems or sudden death if left untreated. Individuals with Pompe disease should have regular checks of their heart and may need to avoid certain medications. They should be seen regularly by their main doctor as well as a cardiologist (heart specialist).

References
What are the lung problems in Infantile onset Pompe disease?

The most common lung problems in infantile onset Pompe disease (IOPD) involve the inability to breathe well because the diaphragm, a muscle that helps the lungs draw in air, doesn't work as well as it should. This causes less air in the lungs, a weak cough, and problems with breathing during sleep (sleep apnea). Infants with Pompe disease are more likely to aspirate (breathe in liquid or food) which can lead to aspiration pneumonia, an infection of the lungs. It can sometimes be hard to tell if infants are developing breathing problems because we can't test a baby's lung function by asking him/her to breathe in and out. Instead, the doctor will ask about how the baby sleeps during the day and the ability to do things like walk or eat without breathing hard. When someone can't breathe deeply, they also can't cough very well and so they build up secretions (fluid) in the lungs that can get infected, leading to pneumonia. Problems with breathing during sleep can happen before daytime breathing problems because the diaphragm has to work harder to move the lungs when a person is lying down. A sleep study can be done to find out if a child has sleep apnea and breathing machines can be used to help them breathe (for example, a CPAP machine). Sometimes infants and children with IOPD need help with breathing through a ventilator (breathing tube). A tracheostomy, commonly referred to as a trach, may need to be performed. It is a surgery that places a hole into the neck and into the trachea (windpipe) so that the breathing tube can be directly connected to the lungs. If a trach is done, it can be removed later if the child gets stronger and can breathe without the ventilator. A respiratory therapist is someone specially trained to help people manage their breathing problems, for example, there may be exercises that can help to strengthen the breathing muscles.

References
  • Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.
  • Pompe Disease - Managing Symptoms: Breathing Difficulties https://www.pompe.com/en/patients/managing-pompe/managing-symptoms/breathing.aspx
What are the lung problems found in Late onset Pompe disease?

The most common lung problems in late onset Pompe disease (LOPD) involve the inability to breathe well because the diaphragm doesn't work as well as it should. This causes less air to enter the lungs, a weak cough, and problems with breathing during sleep (sleep apnea). People with LOPD are more likely to aspirate, or breathe in liquid or food, which can lead to aspiration pneumonia (lung infection). Adults should have regular pulmonary function testing (PFTs) to determine how well the lungs are working. It is difficult to perform PFTs on children because they don't always understand the instructions. When someone can't cough strongly enough, they build up secretions (fluid) in the lungs that can get infected, leading to pneumonia. Problems with breathing during sleep can happen before daytime breathing problems because the diaphragm has to work harder to move the lungs when a person is lying down. A sleep study can be done to find out if someone has sleep apnea, and breathing machines can be used to help them breathe (for example, a CPAP machine). If a person develops respiratory failure and cannot breathe by himself/herself, he/she may need to be ventilated. A tracheostomy, commonly referred to as a trach, may need to be performed. It is a surgery that puts a hole into the neck and into the trachea (windpipe) so that the breathing tube can be directly connected to the lungs. If a trach is done, it can be removed later if the person gets stronger and can breathe without the ventilator. A respiratory therapist is someone specially trained to help people manage their breathing problems, for example, there may be exercises that can help to strengthen the breathing muscles.

References
What are the problems with eating and digestion in infantile Pompe disease?

People with Pompe disease often have problems with eating and swallowing. Infants with Infantile onset Pompe disease (IOPD) have facial muscle weakness (hypotonia) and a big tongue, which causes problems with sucking. Swallowing problems can be caused by weakness as well and can lead to an increased risk for aspiration (inhaling liquid or food into the lungs) which can lead to pneumonia. If a baby is having severe issues with sucking and swallowing or with aspiration, a nasoduodenal tube (which goes through the nose into the stomach) or a gastro-jejunal tube (GJ tube, which goes through a hole in the belly into the stomach) can be used to feed the baby. Sometimes infants with IOPD who start enzyme replacement therapy (ERT) can start eating by mouth again once their muscles get stronger.

References
What are the problems with eating and digestion in late onset Pompe disease?

People with Pompe disease often have problems with eating and swallowing. In late onset Pompe disease (LOPD), facial and oral (mouth) weakness gets worse which causes problems with chewing and swallowing. Swallowing problems and reflux (food or liquids coming back up the digestive tract) lead to an increased risk for aspiration (inhaling liquid or food into the lungs) which can lead to pneumonia. If someone with Pompe disease has severe swallowing or reflux problems, he/she can have a procedure to place a nasogastric (NG) or nasoduodenal tube (which goes through the nose into the stomach) or a gastro-jejunal tube (GJ tube, which goes through a hole in the belly into the stomach). Some people think that eating a high protein, low carbohydrate diet may help people with Pompe disease to reduce the buildup of glycogen, but studies have not shown a clear benefit yet. A registered dietitian may be able to help with meal planning to make sure individuals with Pompe disease get enough nutrients.

References
Do children with Pompe disease have learning problems?

Intelligence is thought to be normal in infantile and late onset Pompe disease. Studies after the death of some patients with Pompe disease have shown buildup of glycogen in the brain and spinal cord, however, so it is possible that some minor damage may occur over time. This is becoming more evident now that people with Pompe disease are living longer with better treatments like enzyme replacement therapy. Children with IOPD often have speech that is hard to understand because of the weakness in their facial muscles and because they have more secretions as they are less able to swallow. Children with late onset Pompe disease may experience physical limitations as their muscle weakness worsens, but many have attended college and beyond. An evaluation by a developmental pediatrician is the best way to determine if a child has learning problems.

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