Leukodystrophy – What is it, Causes and Symptoms

Leukodystrophy – What it is, Causes and Symptoms , that many still don’t know. Additionally, the term Leukodystrophy refers to a group of disorders that affect the Brain , spinal cord, and peripheral nerves. Leukodystrophy primarily affects the myelin sheath of the brain and to a lesser extent other parts of the nervous system.

The human brain contains an outer layer of gray matter, where most of the cell body’s neurons are located, and an inner white matter, which contains the axons (or “filaments” that connect nerve cells with the rest of the body). Axons are surrounded by a fatty, white substance called the myelin sheath that acts as a shield and allows impulses to be conducted quickly.

The myelin sheath can be damaged in a number of ways besides Leukodystrophy . Other white matter abnormalities in the brain are due to non-genetic, acquired or environmental problems, including meals and multiple sclerosis. These disorders, as well as genetically determined abnormalities that affect nerve cells beyond the myelin sheath, are not considered Leukodystrophy .

Causes of Leukodystrophy:  Leukodystrophy usually appears for no apparent reason. Leukodystrophy mainly affects the  central nervous system, however damage can occur in other parts of the body, but more rarely.

The symptoms of Leukodystrophy  manifested are very varied, at an early stage the clinical signs are usually poorly recognized. Changes in muscle tone may occur with changes in gait, behavior and memory, hearing and vision loss, and swallowing problems. There is also great variability regarding the age of onset of  Leukodystrophy symptoms.

All Leukodystrophy results from problems related to myelin , such as its growth and maintenance. There are several genes that act in the different steps of the myelination process of neurons. When mutations occur in these genes, a specific type of Leukodystrophy can occur.

The different genes involved cause different clinics, and these differences may reflect the genetic etiology, which lead to the involvement of specific regions of the nervous system for each Leukodystrophy .

Examples of Leukodystrophies:

  • 18q Syndrome with Myelin Base Protein Deficiency;
  • Adrenoleukodystrophy;
  • Aicardi-Goutieres Syndrome;
  • Alexander’s Disease;
  • Canavan disease;
  • CACH Syndrome – Diffuse Central Myelinolysis;
  • Krabbe’s Disease;
  • Metachromatic Leukodystrophy;
  • Pelizaeus Merzbacher disease (X-linked spastic paraplegia);
  • Refsum’s Disease;
  • Zellweger syndrome.

Symptoms of Leukodystrophy:  The symptoms of Leukodystrophy depend on the etiology and the region that is most affected, with great variability in relation to the age of onset of Leukodystrophy  symptoms, which generally manifest after a period free of any symptom.

In these early stages, clinical signs are poorly recognized. The manifestations occur gradually, being gradually noticed as: change in body tone and movements, changes in gait, speech, vision, hearing, behavior, memory and mental processes.

Often in the early stages of Leukodystrophy , the signs and symptoms are difficult to recognize. Many other diseases, most of which are more common, manifest in the same way. Thus, Leukodystrophy should not be diagnosed until the possibility of other, more common diseases has been ruled out.

Leukodystrophy Treatment: Leukodystrophy  treatment options include:

  • Medicines;
  • Physical activity, occupational and/or speech therapy;
  • Nutritional programs;
  • Bone marrow transplantation, among others.

It is worth mentioning that in some of the Leukodystrophies , bone marrow transplantation can help to stop the progression of the disease.

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