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Pompe disease is by far one of the strangest genetic disorders that the medical community is aware of. It is a disruption of the systematic order of the genetic structure that sees the buildup of complex sugar known as glycogen in the cells of the body. Pompe disease has been described as manifesting in three types or ways by researchers, depending on the severity and the age they can strike in.
This genetic condition is primarily inherited or passed down in an “autosomal recessive pattern,” which means that cell mutations manifest in both copies of the gene. The parents of someone who has an autosomal recessive condition each possess a copy of the mutated gene. However, they usually do not show any symptoms of the condition.
With the emergence of this disease, the mutations of the acid alpha-glucosidase (GAA) enzyme gene reduce or completely terminate this enzyme. This causes the development of glycogen, damaging skeletal muscles and the heart most severely. The degree of severity of this disease is associated with the extent of the GAA enzyme deficiency.
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What is Pompe Disease?
Pompe disease is also known as acid-maltase disease or glycogen storage disease II. It is a rare genetic disorder that leads to the progressive decline of the cardiac and skeletal muscles. It is primarily caused by mutations in a specific gene that secretes a particular enzyme known as the acid alpha-glucosidase (GAA).
The GAA enzyme is used by the body to effectively break down glycogen, the form of stored sugar in our body which generates energy when burned.
This enzyme works actively in the lysosomes of the body, which are intracellular structures serving as cellular recycling centers. Lysosomes consume a number of substances that also includes glycogen, which is then converted into glucose by the GAA enzyme. This sugar activates muscle functions.
When the GAA gene mutates, it prevents the GAA enzyme from simplifying the complex structure of glycogen effectively. This leads to the buildup of sugar in the body to alarmingly toxic levels. Such a buildup slowly affects the tissues and the organs, spreading throughout the body. It particularly destroys muscles, leading to eventual deterioration.
What Are the Types of Pompe Disease?
Based on the extent of the disease and the age at which it strikes, medical experts classify Pompe disease into three main types:
1. The classic form of infantile-onset of Pompe disease
This form of the disease sets in babies within a few months of birth. Infants who get this disorder usually experience myopathy or muscle weakness, hypotonia, or poor muscle tone, and hepatomegaly, or enlarged liver condition, along with heart issues.
Such infants might fail to gain weight and grow at a normal rate. They might also suffer from breathing problems. If it is not treated on time, death may follow from heart failure in the first year of the infant's life.
2. The non-classic form of the infantile-onset stage
Pompe disease can appear in this form by the age of 1. It can usually be identified by delay in motor skills and increasing weakness in the muscles. One of the symptoms of the disease can be an abnormally large heart or cardiomegaly. Affected individuals do not, however, get heart failure from this.
Muscle weakness causes severe breathing complications. Most children with this form of the disorder do not survive past their early childhood.
3. The late-onset type of the disease
This form of the genetic disorder may not be apparent until much later in childhood. It can also make its presence felt in the adolescent years or even adulthood. The late-onset type generally comes with milder symptoms and is less likely to affect the heart.
However, most people with this form of the disease suffer from progressive muscle weakness, manifesting especially in the trunk and the legs. It also affects the respiratory muscles that regulate breathing. As the disease progresses, breathing issues might lead to respiratory failure.
What Are the Pompe Disease Symptoms?
The symptoms of this disease vary depending on the form of it in individuals and the age it has set in.
1. The classic type in infants might include the following symptoms:
- Poor muscle tone
- Weak musculature
- Failure to gain weight and grow
- Trouble breathing
- Liver enlargement
- Respiratory system infections
- Problems with feeding
- Hearing problems
2. Symptoms of the disease in the non-classic type may be as follows:
- Delayed motor skills
- Abnormally large heart
- Progressive muscle weakness
- Breathing complications
3. Symptoms for the late-onset type might include:
- Weakness in the trunk and the legs
- Breathing complications
- Muscle pain spread over a substantial area
- Progressive difficulty in walking
- An abnormally large heart
- Loss of walking ability
- Loss of ability to exercise
- Falling spells
- Frequently occurring lung infections
- Shortness of breath while exerting oneself
- Weight loss
- Exhaustion during the day
- Morning headaches
- Difficulty swallowing
- Irregular heartbeat
- Increase in difficulty hearing
- Higher levels of creatine kinase enzyme production
What Is the Treatment for Pompe Disease?
The treatment for Pompe disease usually involves Enzyme Replacement Therapy (ERT), which is an approved treatment for all the forms of the disorder.
A medication known as alglucosidase alfa is given to the patients intravenously. It is specially engineered to mimic the functions of the naturally occurring GAA enzyme.
A team of specialists including respiratory therapists, heart doctors, and neurologists, among others, can treat specific ailments caused by the disease, offering supportive care for Pompe disease patients.
Pompe disease can be a fatal genetic disorder, especially for babies. It is not easy to place a finger on when it makes its presence felt. Pompe disease is rare and affects only one person out of 40,000. Thus, it is always advisable for you to consult your healthcare provider to know about the specifics of any case.
