Adult Polyglucosan Body Disease: Symptoms, Causes, Treatment, Cost and Side Effects

Discovered in early 1980, APBD or adult polyglucosan body disease is unusual from of genetic disorder that mainly affects the production of glycogen-branching enzymes. The enzyme is quite important for the digestion and storage of large, complex, sugar-based molecules named glucose in the human body.

This inherited mutation causes a slow-paced degradation in glycogen-branching enzymes which hampers the overall bodily functions. Even though the disease is developed at the neonatal stages, it generally shows its major side effects in the adult stage. This is also why the disease has the word ‘adult’ at the start.

This decrease in glycogen-branching enzymes is caused due to mutated dysfunction of the central and peripheral nervous systems (brain and spinal cord). Inadequate coordination of the CNS and PNS carats havoc sensory, motor, and nervous system resulting in various physical discomforts.

Summary: APBD or adult polyglucosan body disease is a rare form of genetic mutation that mutates in the working of the brain and nervous system. This mutation hampers the production of glycogen-branching enzymes which are responsible for glucose storage and digestion.

APBD symptoms are frequently seen in the later stages of life, which is adulthood. They may vary in each individual case on the basis of detection, severity, and overall effect on an individual’s body. However, there are some common sections of the body where you can see the symptoms. These may include bladder, muscular functioning of arms and legs, or cognitive impairment. Signs include:

• Complete or partial loss of bladder control
• Frequent urination
• Weakness and numbness in the feet and hands
• Food drop
• Weakness in the arms and legs
• Stiffness of the legs
• Difficulty in walking
• Mild attention and memory deficits
• Progressive loss of memory
• Degradation of intellectual abilities (dementia)

Summary: APBD symptoms show slow progress amongst its affections. The signs may come at different ages, stages and with different severity levels.

The root cause of adult polyglucosan disease is a mutation in the GBE1 gene. However, the nature of the mutation can be different. In most patients, the mutation is found in the autosomal recessive form. In conclusion, the newborn gets the inheritance of the default gene if both of the parents have an active or inactive form of genetic mutation.

Later studies and research have seen two other forms of mutation as well. The Y329S (heterozygous state) and intronic mutation. Y329S form of mutation in the GBE1 gene is quite identical to the autosomal dominant alteration. In other words, just one copy of the gene has the mutation, while the other copy is normal.

This generally results in asymptomatic inheritance of the disease, but the intensity of symptoms is equivalent to the original mutation.

Lastly, the intronic mutation is a different form of mutation as it generates during the development of the fetus. Intronic mutation targets the non-coded section of the gene and alters its coding, creating a mutated version of DNA in the newborn. This form of mutation is only found in one copy of the GBE1 gene amongst its patients.

All three forms of mutations result in miscommunication of the GBE1 gene to glycogen branching enzyme or GBE. The enzyme is crucial for the adequate synthesis of glucose. Disturbance in glucose digestion and management results in various physical and mental health issues.

Summary: Adult polyglucosan body disease can be caused by three forms of genetic mutations. These include autosomal recessive, heterozygous state, and intronic mutation. This hampers the development of the GBE1 gene, which results in the unusual distribution of glycogen branching enzymes in the body.

The diagnosis of the disease starts with a physical examination of the patient current situation. If the signs point to the APBD disease symptoms, the medical professional will prescribe to have different forms of testing. Some of them include electron and light microscopy, sural nerve biopsy, and a biochemical test of the blood cells combined with genetic screening like MRI.

The key motive of the testing is to locate amorphic polyglucosan bodies. These bodies are generally found in cultured skin cells or white blood cells found in the peripheral blood. It can also be found in the white matter of the brain.

Once the presence of APBD disease is detected, the doctor will advise you to have molecular genetic testing to come to conclusions. This is very expensive and is a procedure that is only recommended after getting onto every possible set of tests.

Summary: The diagnosis of adult polyglucosan disease includes a physical examination, medical assessment of family and personal history, screening, and other forms of medical testing.

There is no known method for preventing adult polyglucosan body disease from becoming hereditary. As a result, these diseases will persist in future generations. The only method to prevent having future descendants from the same bloodline in such cases is to avoid having any future descendants from the same lineage.

Summary: Adult polyglucosan disease is an incurable disease. On the other hand, future generations of a family with such genetic mutations should not be planned.

APBD disease can happen at any stage of life, so there is no fixed time period at which it can be detected or examined. So, if your physical discomfort intensifies for no apparent reason, it's vital to get medical treatment. Fetal support is especially essential during pregnancy since it gives you time to consider your options.

Summary: If a person shows any of the APBD symptoms, it is critical to get medical help.

APBD disease symptoms and disease, in general, is a chronic illness that does not improve with time. It's a genetic issue that was pre-programmed into your DNA at birth and can't be erased or treated in today's world.

Summary: APBD is a long-term sickness that does not go away by itself.

Treatment plan Adult Polyglucosan Body Disease does not have any fixed guidelines that ensure complete recovery. Genetic mutations such as APBD do not have any discovered cure so far, so the treatment mainly focuses on disease management and control. It needs a qualified team of medical experts like urologists, specialists in physical medicine rehabilitation, specialists in behavioral neurology, neurologists, general internists, psychologists, and medical social workers.

There is no cure, but there are certain medical treatments that support individual health for a long APBD life expectancy. To drain extra urine from the bladder, antispasmodic medicines and indwelling or an in-and-out catheter are utilized. Other bodily discomforts are managed with physical and occupational therapy assistance such as braces, adjustable beds, wheelchairs, water mattresses, hand splints, limb supports, and/or sheepskin mattress pads.

To deal with congenital issues counselling from a psychologist or psychiatrist is recommended for both patient and the family.

Summary: Treatment of Adult Polyglucosan Body Disease is concentrated mainly on disease management and control.

The food plan has not been effectively sent according to the current APBD disease therapy standards. After a thorough examination of your physical condition, your doctor can only advise you on which meals to consume or avoid.

Summary: Under current therapy standards, the meal plan for APBD disease has not been adequately established.

The food plan has not been effectively sent according to the current APBD disease therapy standards. After a thorough examination of your physical condition, your doctor can only advise you on which meals to consume or avoid.

Summary: Under current therapy standards, the meal plan for APBD disease has not been adequately established.

The treatment's side effects may differ based on the prescription provided by your doctor and the treatment your doctor is using to treat your medical condition. The focus of treatment is on preventing and managing adult polyglucosan body disease because this type of hereditary condition has yet to be cured.

Summary: Side effects occur when the prescribed limit is exceeded or when the prescription is given incorrectly. It also depends on the health of the individual.

Yes, seeking APBD treatment as soon as you see signs of APBD is crucial. This will help the doctor prevent the patient from developing life-threatening diseases by addressing the issues early on.

Summary: Get medical help as soon as possible if you've been diagnosed with APBD disease.

There isn't one. As a genetic illness, APBD treatment has not been established by medical authorities. This type of autosomal recessive disease continues to harm the body throughout life.

Summary: Adult polyglucosan disease is a condition that affects both men and women. Treatment is a lifetime illness with no defined healing period.

APBD treatment costs vary based on the selected plan and include medical consultations, medications, non-surgical procedures, and surgical treatments. The overall cost of the therapy could be between 10 and 12 lac each year.

Summary: The cost of apbd disease may range from 1,000 rupees (consultation) to 10 lac per year.

Adult polyglucosan disease is a genetic condition that an individual inherits from the moment he or she is born. As a result, there is no physical activity that can assist you in treating your medical condition. However, you may always contact your doctor for advice on how to maintain good physical health.

Summary: There is no specific physical exercise that may be used to treat APBD. However, one can retain proper physical health by following a healthy workout routine.

There isn't a specific APBD treatment plan that can be mentioned. This is due to the fact that medications indicated for genetic alterations are provided to limit or manage the disease's harm.

Summary: There is currently no specific drug available to treat adult polyglucosan disease. However, your doctor may prescribe medications that are appropriate for treating your surface symptoms.

No, the treatment's effects are not permanent, and if the treatment is postponed or stopped at any point in your life, you may experience a relapse.

Summary: Because the disease is genetic in nature, the treatment results will not be lasting.

The mineral content or method of medications and treatments used to control and manage the APBD disease can vary. However, no other compounds may be used to modify it. In other words, there is no feasible option in these circumstances.

Summary: In the absence of a defined treatment plan, your doctor will devise one based on your current symptoms. As a result, APBD presently has no suitable alternatives.

This treatment option is available to people who have symptoms of Adult Polyglucosan Body Disease. Patients with similar symptoms from different conditions can also participate in any or all phases of the treatment.

Summary: Those who exhibit one or more symptoms of APBD disease can receive treatment.

People who do not show signs of Adult Polyglucosan Body Disease should avoid the treatment. Other medical conditions with distinctive symptoms are also ineligible for APBD treatment.

Summary: Adult Polyglucosan Body Disease (APBD) patients are not eligible for treatment.

Adult Polyglucosan Body Disease has no cure, this treatment will last as long as the patient lives. As a result, the only specific instruction given to the patient is to strictly follow your prescription.

Summary: Adult Polyglucosan Disease recovery is impossible due to the fact that the illness is permanent, hence there are no post-treatment protocols to follow.

Summary: Adult polyglucosan body disease or APBD is a genetic disorder that mainly affects the production of glycogen-branching enzymes. This happens due to a mutation in gene GBE1. This gene can be found in different types of mutations. There is no cure for the disease so far, however, there are certain therapeutics that can help the patient with disease management.