Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is one of the most common genetic disorders affecting 1 in every 17000 newborns in the US. Learn all about this abnormal condition and get detailed information on its causes, symptoms, diagnosis and treatment.

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What is Adrenoleukodystrophy?

It is an inherited disorder which disturbs the metabolism of very long chain saturated fatty acids or VLCFA. In sufferers of this ailment, VLCFAs accumulate in large quantity and cause damage to the brain and peripheral nervous systems. This chronic syndrome is characterized by a failure of the adrenal glands, which ultimately leads to the loss of the myelin sheath adjoining nerve cells in the brain and causes even death.

ALD is one of the group of genetic conditions that are collectively known as Leukodystrophies. A genetic disorder, it is transferred from parents to offspring as an X-linked genetic trait.

Adrenoleukodystrophy ICD9 Code

The ICD9 code for this condition is 277.86.

Adrenoleukodystrophy Synonyms

This disease is also known by various other names, such as:

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  • Adrenomyeloneuropathy
  • Childhood cerebral adrenoleukodystrophy
  • AMN
  • ALD
  • X- ALD
  • Addison Disease with Cerebral Sclerosis
  • Sudanophilic Leukodystrophy
  • Bronze Schilder Disease
  • Melanodermic Leukodystrophy
  • Schilder Disease
  • Schilder-Addison Complex
  • Siemerling-Creutzfeldt Disease

Adrenoleukodystrophy Types

ALD can be categorized into three basic forms:

Childhood

It is the classical form of ADL and often leads to the death of sufferers. This progressive disorder often causes severe disability among the affected patients.

Adult-onset

This form of ALD can also be termed as Adrenomyeloneuropathy. It appears in individuals between 21-35 years of age and progresses very slowly.

Neonatal

This progressive type of Schilder Disease affects both males and females. It is very rare and is characterized by a number of symptoms.

Adrenoleukodystrophy Causes

Adrenomyeloneuropathy is an X-linked genetic disease that damages the protective sheath covering the nerve cells, known as myelin. It affects the normal body functions of the patient, especially the vocal cord. Due to the inability of the body to dispose the excess VLCFA (very long chain fatty acids), the myelin sheath is affected, causing Addison Disease with Cerebral Sclerosis.

Adrenoleukodystrophy Symptoms

The symptoms of ADL depend on the type of it that one is suffering from. Various forms of X-linked Adrenoleukodystrophy display distinct features which have severe impact on the body of the patient. Know about the symptoms of various types of ALD.

Childhood ALD Symptoms

The symptoms include:

  • Worsening of handwriting
  • Hearing loss
  • Seizures
  • Hyperactivity
  • Trouble at school
  • Worsening nervous system deterioration (such as Coma, Decreased fine motor control and Paralysis)
  • Difficulty in comprehending spoken material
  • Changes in muscle tone, especially muscle spasms and spasticity
  • Crossed eyes
  • Decreased understanding of verbal communication
  • Swallowing problems
  • Visual impairment or blindness

Adrenomyelopathy Symptoms

The symptoms comprise of:

  • Leg Stiffness
  • Problem in controlling urination
  • Difficulty with thinking and visual memory

Neonatal ALD Symptoms

The warning signs involve:

  • Poor muscle tone
  • Unusual facial appearance
  • Enlargement of liver
  • Seizures
  • Adrenal gland damage
  • Degeneration of the retina

Adrenoleukodystrophy Diagnosis

The diagnosis of this syndrome is dependent on the symptoms and clinical findings. A testing of the VLCFA serum levels also helps diagnose the occurrence of this disease. A few other tests recommended for the diagnosis of ALD include:

MRI

It helps detect the abnormalities of the white matter.

Genetic testing

It helps examine the defective gene and determine the cause of its occurrence in a patient.

Adrenoleukodystrophy Treatment

The treatment for each and every form of ALD aims at healing the symptoms of the disorder. In a few cases, patients are aided with psychological counseling, physical therapy and special forms of education. In most cases, however, doctors recommend use of treatment options that aim at resolving the symptoms of ALD altogether. These include:

Medicinal Steroids

Steroids, such as Cortisol, can be used to heal adrenal dysfunction. However, these steroids have some side effects which are visible at a later stage.

Dietary Measures

Dietary measures are often recommended to treat the symptoms of this syndrome naturally. Patients are recommended diets where the VLCFA level is low and fat content is high.

Special Oils

Lorenzo Oil is said to lower the level of VLCFAs among the males affected with X-linked ALD, if consumed for a longer period of time. However, this oil cannot influence the loss of myelin level in the body.

Bone Marrow Transplantation

This process has been found to successfully cure patients in a few cases. However, a certain amount of risk is involved in the procedure which cannot be avoided.

Adrenoleukodystrophy Prognosis

The prognosis for ALD patients is not good. The reason behind poor prognosis is progressive neurological deterioration. ALD is a progressive disorder in children. In a few cases, suffering children can move into a state of long-term Coma. In such situations, children can live only up to 10 years. Death is inevitable between 1 and 10 years after the symptoms start emerging.

Adrenoleukodystrophy Complications

ALD is a complicated genetic syndrome. If left untreated, this disorder can give rise to a number of complications including:

  • Adrenal Crisis
  • Vegetative State

Adrenoleukodystrophy Prevention

Couples planning to have children and having a family background of ALD are highly recommended to undergo genetic counseling. With the aid of VLCFA test and DNA study, diagnosis is possible among the female carriers of the defective gene that leads to ADL.

Adrenoleukodystrophy Life Expectancy

According to medical statistics, death occurs within 1 to 10 years after the symptoms are visible in patients affected with ALD.

Adrenoleukodystrophy is severe genetic disorder. Parents having children affected with ALD should not neglect the disease in any case as it can lead to death. They should consult a health care provider immediately if they suspect their children to be displaying the symptoms of the disorder.