How Does Pompe Disease Affect The Body?

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..

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. Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment.

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.

What type of mutation is Pompe disease?

Pompe disease (PD-MIM# 232300), is an autosomal recessive lysosomal storage disorder due to mutations in the acid alpha-glucosidase (GAA) gene (MIM#606800) encoding the lysosomal GAA.

Why is it called Pompe disease?

Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme.

How does a person get 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).

What type of doctor treats Pompe disease?

Specialist teams (heart doctors, respiratory therapists, neurologists, etc.) can treat symptoms and offer supportive care for those with Pompe disease. Ask your doctors about details for each specific case.

What happens in Pompe disease?

Pompe disease happens when your body can’t make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles.

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.

Can Pompe disease be cured?

Although there is currently no cure for Pompe disease, different treatment options can help to ease its symptoms.

What gene causes Pompe disease and how is it inherited?

Pompe is a genetic disease that is inherited in an autosomal recessive pattern, meaning that a person develops the disease only if both copies of the GAA gene they inherit are faulty. People with one mutated copy of the gene are called carriers.

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.

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.

Can Pompe disease be prevented?

How can Pompe disease be prevented? As this is a genetic disease it cannot currently be prevented. Supportive treatment and care are available.

Who discovered Pompe disease?

In 1932, Johannes Cassianus Pompe, a Dutch pathologist, described the disease in a 7-month-old infant who died of idiopathic hypertrophy of the heart; in addition to the cardiac problems, the infant had generalized muscle weakness.

Is Pompe disease painful?

A: Although pain and fatigue are not specific for Pompe disease, they can have a strong impact on patients´ lives.

Is Pompe disease a muscular dystrophy?

A few muscular dystrophies may have symptoms that are like those seen in childhood and adult Pompe disease including facioscapulohumeral dystrophy (FSHD), Duchenne muscular dystrophy and Becker muscular dystrophy. FSHD is characterized by weakness of facial, shoulder (scapular winging), and upper arm muscles.

Is Pompe disease contagious?

Is Pompe disease contagious? No. Pompe disease is inherited, but it cannot be acquired through physical contact with the affected person.