Globoid Cell Leukodystrophy

Globoid Cell Leukodystrophy

Parents should remain vigilant regarding the physical and mental health of their children. If they exhibit symptoms such as; irritability and seizures with a family history of neurological disorders, it is essential to visit the best neurologist in Lahore. The specialist will conduct several tests to diagnose the problem and guide the caregivers to opt for suitable treatment to manage the symptoms.

What Happens In Globoid Cell Leukodystrophy?

Globoid cell leukodystrophy is commonly known as Krabbe’s disease. It is a genetic neurological illness, that causes damage to the myelin sheath, responsible for covering and protecting the nerve cells. There is no cure available for globoid cell leukodystrophy. However, certain treatment options are proven beneficial for managing the symptoms. Children of age five with a genetic predisposition are more likely to suffer from the condition.

What Signs And Symptoms Indicate That The Person Is Suffering From Globoid Cell Leukodystrophy?

The signs and symptoms of globoid cell leukodystrophy are:

  • The patient remains agitated for most of the time.
  • The overall bodily and mental development of the individuals is relatively slow.
  • The individual suffering from the condition experiences seizures.
  • With time, the individual loses their hearing ability.
  • The individual suffers from recurrent episodes of fever.
  • The individual suffering from the condition has less muscle functioning.

What Is The Known Cause Associated With Globoid Cell Leukodystrophy?

The causes of globoid cell leukodystrophy are:

  • Due to the mutation of the GALC gene, the person suffers from the condition. The child inherits two copies of errored genes from mother and father.
  • Lack of galactosyl ceramidase enzyme production causes the accumulation of toxic fats in the brain cells.
  • Due to the continuous loss of myelin, the functioning of the nervous system is affected. It causes multiple physical and psychological problems.

What Are The Complications Associated With Globoid Cell Leukodystrophy?

The complications associated with globoid cell leukodystrophy:

  • Due to constant loss of hearing, the likelihood of permanent deafness increases.
  • The patient is prone to become blind due to malfunctioning of the brain.
  • The patient’s mental health slowly deteriorates, which affects bodily functions. With time, the patient requires caretaking as they cannot function adequately for basic tasks.
  • It can cause respiratory failure and lead to death.
  • The person losses muscle tone. It leads to further physical complications.

What Tests Assist In Diagnosing Globoid Cell Leukodystrophy?

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The tests that help in diagnosing globoid cell leukodystrophy are:

  • Imaging Testing: Magnetic reasoning imaging helps in identifying any abnormality in the brain that causes the manifestation of the symptoms.
  • Genetic Testing: It helps identify and detect the mutation in the cells that contributed to the development of the condition.
  • Nerve Conduction Study: It helps determine the speed at which the electric impulses travel to the nervous system to evaluate the functioning of the brain.

What Treatment Options Are Proven Beneficial For Managing The Symptoms Of Globoid Cell Leukodystrophy?

The treatment options include:

  • Use of anticonvulsants: The medications help in controlling the seizures, which may cause other physical problems.
  • Cord Blood Transfusion Procedure: The procedure helps transfuse the stem cells in the patient to help repair the damaged cells and improve the overall functioning.
  • Bone Marrow Transplant: The procedure enables the replacement of the bone marrow.
  • Occupational Therapy: It helps the patient to cope with their condition. Additionally, it helps to learn to complete basic everyday tasks.
  • Physical Therapy: It helps reduce the pain, improve the overall functioning and minimize the chances of disability in the patient.

Caregivers should consult a neurologist in Surgimed hospital for guidance regarding the medications, therapy, and procedures. It would help the patient to manage the symptoms and avoid complications.

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