Question: How Is Pompe Disease Diagnosed?

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 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.

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 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.

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 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.

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.

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 (17q25.

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 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.

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.

How do you test for Pompe disease?

Testing for GAA enzyme levels:Testing for GAA enzyme activity is a way to diagnose Pompe disease. … Enzyme activity can be measured in skin cells (fibroblasts), muscle tissue, and blood. … The dried blood spot (DBS) test is commonly used due to its accuracy and convenience.

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.

How does enzyme replacement therapy work?

How Does Enzyme Replacement Therapy Work? ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. This enzyme breaks down glucocerebroside, the fatty chemical that accumulates in the body of patients with Gaucher disease.

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.