DYSMYELOGENIC LEUKODYSTROPHY

Dysmyelogenic Leukodystrophy or the Alexander disease is an uncommon nerve system condition. It is one of a series of diseases known as leukodystrophies, which includes myelin breakdown. Myelin is a fatty coating that protects nerve cells and facilitates the fast passage of nerve impulses. If myelin is not adequately sustained, nerve impulse transport may be impaired. Moreover, nervous system activities are compromised when myelin deteriorates in leukodystrophies, such as Dysmyelogenic Leukodystrophy.

TYPES

Typically, three types of Dysmyelogenic Leukodystrophy were defined, depending on the age of onset: infantile, juvenile, and adult. However, a study of a large number of cases found that the condition is best thought to possess two forms. These forms are classified as:

  • Type I. This type usually manifests itself by the age of four.
  • Type II. This type typically manifests at any age but is more prevalent after the age of four.

SYMPTOMS

The most prevalent symptoms of Type I include:

  • failure to progress
  • gain weight at the appropriate level
  • physical, mental, and behavioral skills delay
  • instances of uncontrolled electrical activity in the brain that occur unexpectedly
  • progression of head expansion
  • muscular stiffness and limitation of mobility
  • loss of coordination
  • vomiting and difficulty eating, coughing, breathing, or talking

Symptoms associated with type ll include:

  • developmental delays or regression
  • Macrocephaly
  • mental deterioration
  • seizures

If you see any of the symptoms mentioned above, you should consult your doctor immediately.

DIAGNOSIS

Dysmyelogenic leukodystrophy is diagnosed based on physical symptoms, brain imaging, and the findings of genetic studies.

  • MRI. This test is an important diagnostic tool since it can detect disease-related patterns in brain tissue.
  • Genetic testing. This test can detect GFAP gene mutations linked to Alexander disease. A blood sample is used for this examination.
  • Neuropsychological testing. This test may be used to evaluate a person’s cognitive capabilities. A range of tests may also be conducted to see how the disease is affecting your child’s reasoning, concentration, problem-solving, and memory.

TREATMENT

Unfortunately, there is no cure for Dysmyelogenic Leukodystrophy at this time, although the symptoms can be managed.

Affected persons can avoid unnecessary suffering and problems by receiving proactive, complete medical care, allowing them to live their best lives. Moreover, patients and family members may gain from genetic counseling. 

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