What is early onset Pompe disease?

What is early onset Pompe disease?

The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects.

What are the symptoms of acid maltase deficiency disease?

Signs and symptoms of acid maltase deficiency

• Early hypotonia.
• Massive cardiomegaly, soft murmur, and heart failure.
• Weakness and depressed or absent muscle stretch reflexes.
• Macroglossia.
• Moderate hepatomegaly.
• Mental retardation.
• “Metabolic” anterior horn cell pathology (uncommon)

How long can you live with Pompe disease?

They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease).

What causes late-onset Pompe disease?

Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT).

Which organs are most affected by Pompe disease and why?

Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. You might hear Pompe disease called by other names such as GAA deficiency or type II glycogen storage disease (GSD).

Is it true that the life span of individuals with Pompe’s disease is 9 years?

They can survive up to age 30 if the disease appears in childhood and up to age 50 if it develops in adulthood. Generally, the later the age of onset, the slower the disease progression and the longer the life expectancy.

What happens when maltase stops functioning?

This disease causes slowly progressive weakness, especially of the respiratory muscles and those of the hips, upper legs, shoulders and upper arms. Enlargement of the tongue and liver impairment occur in the infantile form but rarely in the older-onset forms.

How is maltase deficiency treated?

The U.S. Food and Drug Administration has approved alglucosidase alfa (Myozyme) for use in patients with Pompe disease. A type of enzyme replacement therapy, Myozyme is a form of GAA — the enzyme that is absent or reduced in the disorder. The drug is usually administered via intravenous infusion every other week.

Can you survive Pompe disease?

Is Pompe always fatal?

What Is the Life Expectancy for Pompe Disease? The infantile form of Pompe disease (type II glycogen storage disease) is usually fatal, and most patients die within 1 year of birth. Enlarged heart with progressive obstruction to left ventricular outflow is a major cause of death.

Is Pompe disease fatal?

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 is the mortality rate of Pompe disease?

Survival from diagnosis The estimated 5-year survival after diagnosis was 95%. At 10, 20 and 30 years this was 83, 65 and 40%, respectively (Figure 1). Survival estimates of 268 untreated adults with Pompe disease from diagnosis until end of study, start of ERT or death. Twenty-three patients died during follow-up.

What are the signs and symptoms of Pompe disease?

with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and. the trunk, including the muscles that control breathing. The first symptom is often a weakness of the legs or hips, which causes a swaying gait or waddle. People may have muscle aches and frequent falls.

How many mutations are there in Pompe disease?

Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency .

What is the role of lysosomes in Pompe disease?

Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.

What is late onset Pompe disease (juvenile/adult Pompe disease)?

Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years.