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| leg muscle from mouse model of pompe disease |
According to the National Institute of Neurological Disorders and Stroke, Pompe disease is a rare hereditary illness that affects just one in every 40,000 persons in the United States (NINDS).
Pompe illness is frequently deadly, especially when detected at a young age. This is due to the fact that it damages the skeletal and cardiac muscles.
A skilled medical team can aid in the treatment and management of symptoms, resulting in a higher quality of life. Furthermore, new medicines and current clinical studies may lead to a better future prognosis.
Pompe disease is also known as glycogen storage disorder (GSD) type II or alpha-glucosidase (GAA) deficiency.
It happens when complex sugar, or glycogen, accumulates in the cells of the body. According to a 2014 scientific review, this stops the cells from functioning correctly.
This accumulation in organs and tissues is caused by a deficit in the enzyme GAA.
When the body's mechanisms are running properly, GAA aids in the breakdown of glycogen. People with Pompe illness, on the other hand, have a mutation in the GAA gene, which causes a decrease or full eradication of the GAA enzyme.
WHAT ARE THE TYPES OF POMPE DISEASE
Pompe disease is classified into two types: early-onset and late-onset.
The National Organization for Rare Disorders reports that infantile onset is frequently related with quicker disease progression and severity than late onset.
Infantile onset Pompe disease (IOPD)
IOPD, or early Pompe disease, is classified into two types:
- Classic onset: A newborn exhibits symptoms within the first several months of life.
- Non-classic onset: A baby's symptoms of the uncommon condition usually appear around the age of one.
This kind of Pompe illness is linked with a total or near-complete GAA deficiency, according to the NINDS. This indicates that the individual has very little or none of the enzyme required to assist the body in breaking down glycogen.
Late onset Pompe disease (LOPD)
LOPD, also known as juvenile and adult Pompe disease, is linked to a GAA deficit. When compared to IOPD, this variety has a substantially wider spectrum of symptoms.
According to the NINDS, people with LOPD may have symptoms as early as their first decade of life or as late as their sixth decade.
Unlike IOPD, this kind of Pompe disease does not cause cardiac damage. Instead, people often experience muscular weakness that develops to respiratory impairment.
WHAT ARE THE SYMPTOMS OF POMPE DISEASE?
Pompe disease symptoms appear in children as early as the first months of life. Among the more prevalent symptoms of IOPD are:
- Lung infection complications
Pompe illness with late onset can potentially manifest symptoms later in life, during the adolescent or adult years. LOPD symptoms may include:
- A distinct stride (walking style) than normal
In Pompe instances that persist several years, death from respiratory failure is possible.
WHAT ARE THE TREATMENTS FOR POMPE DISEASE?
Pompe illness necessitates the use of a specialist medical team. This team can treat and manage symptoms as well as provide continuing care.
A therapy team might include:
- Additional medical professionals
They will collaborate to create a disease-specific treatment plan that is supportive and attempts to control symptoms.
Enzyme replacement therapy (ERT)
Pompe disease therapy is disease-specific, symptomatic, and supportive. All persons with Pompe disease are eligible for enzyme replacement therapy (ERT). It entails the intravenous infusion of a drug that aids in the reduction of glycogen accumulation. Lumizyme was authorized by the Food and Drug Administration (FDA) in 2006, and Nexviazyme will be approved in 2021.
Respiratory treatment, physical therapy, and sufficient nutritional therapy are examples of supportive therapies.
According to the NINDS, the Food and Drug Administration (FDA) authorized alglucosidase alfa (Myozyme) to treat IOPD.
Lumizyme has been utilized by healthcare providers to treat Pompe illness in people of all ages.
The FDA also authorized avalglucosidase alfa-ngpt (Nexviazyme) as an enzyme replacement medication for persons with LOPD in 2021. This is an IV drug that aids in the reduction of glycogen accumulation in the body.
Additional treatments
A therapy team may also prescribe supporting therapies such as:
If chewing and swallowing are issues, they may recommend feeding therapy such as a specific higher calorie diet or a feeding tube.
Another treatment option for Pompe disease is gene therapy, which is considered an exploratory therapy.
One objective of gene therapy, according to NORD, is to restore the body's production and activity of the enzyme GAA in tissues such as the diaphragm to aid increase respiratory capacity.
Other gene treatments are currently in clinical trials, with organizations attempting to advance this sort of treatment for Pompe disease.
CONCLUSION
Pompe disease is a complicated genetic ailment that necessitates the involvement of a multidisciplinary team of healthcare specialists who can treat and monitor symptoms as well as offer continuing care. The younger a person is at the time of diagnosis, the faster the illness worsens.
If you suspect your kid is suffering from Pompe disease, you should seek medical assistance very once.
It may take some time to obtain an accurate diagnosis, but the sooner therapy begins, the higher the odds of preventing further harm to the body.
