Quick Answer: What Is Late Onset Pompe Disease?

Why is it called Pompe disease?

The disease is named after Joannes Cassianus Pompe, who characterized it in 1932.

Pompe described accumulation of glycogen in muscle tissue in some cases of a previously unknown disorder..

Which organelle is affected by Pompe?

The defect results in a build-up of glycogen in the lysosome, a saclike storage organelle in the cell that acts as a waste-disposal system, leading to muscle weakness, organ damage including the brain, and possible death. (The infantile variant of the disease is fatal without treatment, usually within two years).

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.

Is Pompe disease painful?

Some have low back pain. Enlargement of the heart or liver, a classic symptom of infantile onset Pompe disease, is rarely seen in late-onset Pompe disease.

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 enzyme replacement therapy for Pompe?

Enzyme replacement therapy (ERT) is the only effective form of treatment for Pompe disease. It consists of injecting alpha-glucosidase directly into your bloodstream. As a result, your body breaks down glycogen stores and prevents toxic buildups in your cells.

What is the life expectancy of someone 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.

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).

Is Pompe disease 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.

What is Fabry’s Disease?

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body.

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.

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.

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 treatment for Pompe disease?

How is Pompe disease treated? Enzyme replacement therapy (ERT) is an approved treatment for all Pompe patients. A drug called alglucosidase alfa is given intravenously (through the patient’s vein). It is a genetically engineered enzyme that acts like the naturally occurring acid alfa glucosidase enzyme.