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Leukodystrophy: Types, Symptoms, Causes & Treatment
Boldsky | 2nd Jan, 2019 05:11 PM

Leukodystrophy is not a single disease or condition, but a group of diseases that affect the white (leuko) matter of the brain and often the spinal cord. The condition is caused by the inexact development of the myelin sheath that acts as the insulator for the nerve fibres. And, it causes the degeneration of the white matter. The damage or the degeneration of the white matter causes inflammation to the central nervous system (CNS), as well as the loss of myelin. The communication between the nervous system and the brain is disrupted and gradually becomes non-existent.

Leukodystrophy can result in diminished vision and hearing and decreased motor functions. Although the disease is fatal, age and type of condition are critical factors in determining the life expectancy of the diagnosed. In the case of infants, the lifespan between 2 to 8 years is given, while adults have a longer chance of living (more than a decade). The lack of treatment and a cure for the condition has caused the disease to be the centre of extensive researches.

Mostly progressive, leukodystrophies worsen over time with the nerve tissues failing to operate normally. Leukodystrophies are predominantly genetic, that is, they are passed down from the parent to the child.

Types Of Leukodystrophy

There are over 50 different types of the condition, with new ones being classified every year. According to the recent reports, there are almost 30 different types of leukodystrophies. In addition to that, there are many more types of the condition and many more left to be recognised and classified. Some of the most common types of leukodystrophies include

1. Adrenoleukodystrophy (ALD)

One of the common types of leukodystrophies, ALD affects the male gender (X-linked gene) typically. It is found in boys, with the symptoms arising before the age of 10 years. ALD progresses rapidly and can affect the adrenal glands too, causing the limited and restricted production of cortisone. In the case of adults, this genetic shift can lead to adrenomyeloneuropathy, affecting the adrenal glands and spinal cord.

2. Canavan's disease (spongy degeneration)

This type of leukodystrophy causes abnormal growth of myelin. The spongy degeneration results in abated tone, regression, enlarged head and limited head control. The condition worsens over time, resulting in stiffness. Life expectancy is limited for Canavan's disease.

3. Metachromatic leukodystrophy (MLD)

Another commonly found type of leukodystrophy, this condition has a wide range of subtypes. Most of the subtypes of MLD are age-related, such as late infantile MLD, juvenile MLD and adult MLD etc. In the case of infantile MLD, the first signs will be the loss of motor (movement) and verbal skills.

4. Krabbe disease (globoid leukodystrophy)

Affecting the myelin of the peripheral and central nervous systems, this type of leukodystrophy is commonly found in babies. 90% of the reported cases of Krabbe disease are found in babies, with the signs and symptoms arising before the baby is six months old. Rare cases of Krabbe disease in adults have also been reported.

5. Vanishing White Matter Disease (VWMD)

Also termed as the childhood ataxia with cerebral hypomyelination (CACH), this type of leukodystrophy is caused during the first five years of life. VWMD affects the speech and motor skills, causing a progressive deterioration. Resulting in the mildly delayed development and growth, VWMD is also found in adults in some rare cases.

Symptoms Of Leukodystrophy

The signs of the condition can appear shortly after birth and in some cases, the individuals develop it during childhood or adulthood. In accordance with the type of the leukodystrophy and the extent of the white matter damage, the signs and symptoms may vary. However, the one common symptom in all cases of the condition is the abnormal development of the brain's myelin sheath. Some of the most common symptoms include

  • cognitive decline,
  • developmental regression, that is, the loss of skills previously achieved,
  • seizures, and
  • trouble with motor skills, such as new onset problems with walking.

As the condition progresses, the symptoms can include

  • a decline in mental and physical development,
  • abnormal body and muscle tone,
  • breathing difficulties,
  • bladder issues,
  • trouble with speech,
  • difficulty with eating,
  • a decline in vision and/or hearing,
  • abnormal movements, and
  • increased difficulty or loss of ability to walk.
Causes Of Leukodystrophy

Generated by particular gene abnormalities, the genetic disorders are inherited. That is, it is passed down through the genes. Each and every type of leukodystrophy has a certain pattern of inheritance accorded to it.

1. Autosomal recessive

It occurs in the event of an individual inheriting two copies of the abnormal gene, one from each parent. In this case, the child will only inherit the condition if both the parents are carrying the gene. Autosomal recessive affects both boys and girls. It will not reflect any symptoms on the carrier parents, but, there is a one in four chance that the child will develop leukodystrophy or even become the carrier of the genes. A person becomes a carrier when he/she receives one disease gene and one normal gene.

2. Autosomal dominant

It occurs when a single abnormal gene causes the disorder. The abnormal gene could be inherited from either of the parents or can occur due to the any new mutation or gene change in the individual who is affected. During pregnancy, there is a 50% chance of the affected gene being inherited to the child, with the risk being the same for males and females.

3. X-linked

In this case, the gene will be carried on by the X chromosome that determines the sex of the baby. Women have two X chromosomes, whereas men have an X chromosome and a Y chromosome. So, when there is a genetic change, men are affected as they have no additional X chromosome to compensate. Also, girls and boys are affected differently.

4. Other causes

The white matter of the brain can be affected due to other reasons and conditions such as an infection, ischaemia, other metabolic conditions and multiple sclerosis.

Also read: 9 Common Genetic Disorders

Diagnosis Of Leukodystrophy

Consequently, due to the lack of information and limited understanding, there has been a void in understanding the genetic disorder condition. Therefore, the diagnosis of leukodystrophy is not very easy and is often difficult. The diagnosis of the disorder is will be in need of drawing in the input of various specialists including geneticists, neurologists, and metabolic physicians. Depending on the type of the genetic disorder, the methods will include

1. Magnetic resonance imaging exam (MRI)

In this diagnosis method, magnetic field and pulses of the radio wave energy will be used to create a detailed image of the affected areas (brain, spinal cord etc.). The images will help identify the abnormalities and help the process of diagnosis. MRI exam is advised more as it does not expose the child to radiation as an x-ray or CT scans.

2. Genetic tests

Under this method, the DNA of the individual will be analysed in order to assess any changes in the genes, that could be causing the leukodystrophy.

Also read: Why Is Genetic Counselling Gaining Importance?

3. Neuropsychological testing

Here, various tests will be conducted to examine and analyse the cognitive function. This method will help the medical professional in understanding the ways through which the condition is affecting the individual's concentration and reasoning abilities etc.

The other diagnosis methods include

  • physical examination,
  • blood tests,
  • nerve conduction tests,
  • urine tests, and
  • nerve biopsy.
Treatment For Leukodystrophy

As of now, researchers and their findings have revealed that there is no significant cure for the genetic disorder. Studies have revealed that bone marrow transplantation and stem cell therapy have been useful in some cases. Bone marrow transplant, in some cases, has slowed down the progression of the disease.

Time, the severity of the symptoms and age of onset are critical factors that determine the treatment benefit on the diagnosed individual. Therapies have been said to have a positive impact and gene therapy and enzyme replacement therapy are being researched currently to properly analyse and understand its effective role in the treatment for leukodystrophy.

The most common and effective treatment methods include

  • occupational therapy,
  • physical therapy,
  • family counselling,
  • genetic counselling,
  • psychological counselling, and
  • medications.
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