Pompe disease is a rare genetic condition that affects only 1 person in every 40,000 people in the United States, according to the National Institute of Neurological Disorders and Stroke (NINDS).

Pompe disease can be fatal when it is diagnosed early in life. It harms the heart and skeletal muscles.

A better quality of life can be achieved by having a specialized medical team. New treatments and ongoing clinical trials may lead to an improved outlook in the future.

Pompe disease can be referred to as type II glycogen storage disease or alpha-glucosidase deficiency.

It occurs when there is a buildup of complex sugar, or glycogen, in the body’s cells. This prevents the cells from working properly, according to a 2014 research review.

A deficiency in the enzyme GAA causes the build up in organs and tissues.

The body breaks down glycogen when processes are working as they should. A reduction or complete elimination of the GAA enzyme is caused by a Pompe disease variant of the GAA gene.

Pompe disease is a rare genetic condition and there are many symptoms and treatments.

Pompe disease has two main types: initial and late-onset.

According to the National Organization for Rare Disorders, infantile onset is often associated with a faster disease progression and severity than late onset.

Infantile onset Pompe disease (IOPD)

IOPD is a disease of the Pompe disease.

  • Classic onset: a baby displays symptoms within the first few months after birth
  • Non-classic onset: a baby tends to show signs of the rare disease closer to age 1

According to the NINDS, this type of Pompe disease is associated with a complete or near-complete deficiency of GAA. This means that the person has very little or none of the enzyme needed to help the body break down glycogen.

Late onset Pompe disease (LOPD)

LOPD is associated with a partial deficiency of the sport activity activity. This type has a longer range of symptoms than IOPD.

People with LOPD may begin noticing symptoms as early as their first decade of life or as late as their sixth decade, according to the NINDS.

This type of Pompe disease does not cause damage to the heart. Individuals live with Respiratory weakness that progresses to Weakness in the muscles..

Pompe disease symptoms begin in the first months of life for children with early onset. Some of the more common signs of IOPD include:

  • Problems with feeding.
  • Weak muscles.
  • There are concerns about the heart.
  • The heart is enlarged.
  • lag on the head
  • floppiness
  • There was no weight gain.
  • Hearing loss
  • There are lung infections that can have consequences.

Pompe disease can show symptoms later in life, even after the late start. LOPD may have symptoms.

  • Respiratory weakness
  • Weakness in the muscles.
  • muscle ache
  • Mobility difficulties.
  • A walking style that is different than usual.
  • fatigue

Pompe cases can last several years and death from respiratory failure can occur.

Pompe disease requires a specialized medical team. The team can treat and manage symptoms.

A treatment team may include:

  • A doctor.
  • internist
  • orthopedist
  • A doctor.
  • A neurologist.
  • A physical therapist.
  • Respiratory therapist.
  • Other healthcare professionals.

They will work together to develop a treatment plan that will support and manage symptoms.

Enzyme replacement therapy (ERT)

The treatment of Pompe disease is disease-specific, symptomatic, and supportive. Enzyme replacement therapy (ERT) is an approved treatment for all people with Pompe disease. It involves the intravenous administration of a medication that helps reduce the buildup of glycogen. The Food and Drug Administration (FDA) approved Lumizyme in 2006 and Nexviazyme in 2021.

Supportive therapy may include Respiratory therapy., physical therapy, and adequate nutritional therapy.

More specifically, the Food and Drug Administration (FDA) approved alglucosidase alfa (Myozyme) to treat IOPD, according to the NINDS.

Lumizyme has been used to treat Pompe disease for all ages.

In 2021, the FDA also approved an enzyme replacement therapy called avalglucosidase alfa-ngpt (Nexviazyme) for people with LOPD. This is an IV medication that helps reduce the buildup of glycogen in the body.

Additional treatments

ERT is one of the therapies that a treatment team may recommend.

  • Respiratory therapy.
  • It is a form of therapy.
  • occupational therapy
  • Speech therapy.
  • The devices for osteoporosis.

They may suggest feeding therapies, such as a specialized higher calories diet or a feeding tube, if chewing and swallowing are concerns.

Gene therapy is an option for treating Pompe disease.

According to NORD, one goal of gene therapy is to restore the body’s production and activity of the enzyme GAA in tissues like the diaphragm to help improve respiratory capacity.

The groups are working to advance the treatment for Pompe disease with other gene therapies.

There is no way to prevent Pompe disease from occurring. Pompe disease is fatal regardless of type, though treatment can help manage symptoms and prolong life expectancy.

According to the NINDS, infants with classic Pompe disease may live fewer than 2 years and sometimes not even to year 1. If they do not receive ERT, their hearts will progressively thicken and enlarge, causing cardiorespiratory failure or respiratory infection.

Children with Pompe disease may live to be young.

LOPD has a better outlook and a longer life expectancy, especially with the proper treatment.

Pompe disease requires a specialized team of healthcare professionals who can treat and monitor symptoms as well as provide ongoing care. The younger a person is at diagnosis, the quicker the condition progresses.

If you have concerns that your child is showing signs of Pompe disease, it is important to seek medical attention immediately.

It may take some time to get a proper diagnosis, but the sooner treatment begins, the better the chance of holding off damage in the body.