Adrenoleukodystrophy

1 What is Adrenoleukodystrophy?

Adrenoleukodystrophy (ALD) is a genetic disorder that affects the nervous system and adrenal glands.

It is comprised of several inherited disorders caused by disruption in the metabolism from a very long chain of fatty acids (VLCFAs). It is more prevalent among men and is seen in about one in 20,000 – 50,000 people.

ALD is categorized into different types based on the symptoms and the age when the disorder begins.

Categories of ALD include childhood cerebral ALD, adolescent cerebral ALD, adrenomyeloneuropathy, and adult cerebral ALD.

It is not possible to completely cure ALD, but appropriate treatment can control the progression of the disease.

2 Symptoms

Symptoms of Adrenoleukodystrophy depend on the type. Symptoms of ALD start appearing at the age of 4-8 years.

The symptoms include:

  • Muscle spasms and spasticity
  • Crossed eyes
  • Difficulty in learning
  • Hearing loss
  • Hyperactivity
  • Paralysis or decreased motor control
  • Seizures
  • Difficulty swallowing
  • Loss of vision or visual impairment

Symptoms of the adolescent form of cerebral ALD has the onset between 11-21 years of age and resemble that of childhood cerebral ALD.

Adrenomyeloneuropathy begins at around 20 years and is characterized by the following symptoms:

  • Difficulty in walking
  • Stiffness in legs
  • Weakness in legs
  • Inability to coordinate muscle movements
  • Vision loss
  • Increased muscle tone
  • Difficulty in speaking
  • Seizures
  • Adrenal insufficiency

Symptoms of adult ALD begins between 20-50 years and resemble that of schizophrenia and dementia. Some individuals with this disorder may only have adrenal insufficiency.

As the condition progresses, the patient may develop symptoms similar to that of adrenomyeloneuropathy.

Adrenal gland failure is characterized by:

  • Lack of appetite
  • Skin pigmentation
  • Loss of weight
  • Muscle wasting
  • Muscle weakness
  • Vomiting
  • Coma

3 Causes

Adrenoleukodystrophy is inherited as an X-linked genetic trait and is caused by an abnormality in the ABCD1 gene.

The protein produced by the abnormal gene disrupts the metabolism of VLCFAs, leading to its accumulation of cells.

The buildup of defective proteins damages the myelin sheath covering the nerve cells.

This leads to neurological problems associated with this disease. Accumulation of the protein may also affect the outer covering of spinal cord, brain, testes, and adrenal glands.

Men are more commonly affected than females, and they usually have more severe symptoms.

4 Making a Diagnosis

Since Adrenoleukodystrophy has symptoms that resemble many other neurological conditions, diagnosis is difficult.

A thorough evaluation of medical and family history of the patient is the first step.

Other tests used in diagnosis are:

  • Blood tests – high levels of high chain fatty acids in the blood are indicators of ALD. Blood samples are also used for genetic testing to check for mutations that result in this disorder.
  • Imaging -- imaging techniques like MRI are used in detecting nerve tissue damage and abnormalities in the brain. An MRI is very helpful in identifying brain damage and early signs of ALD.
  • Vision tests – in males who are asymptomatic, vision tests help in assessing the progression of the disorder.
  • Biopsy – a biopsy of skin cells also reveal the presence of increased levels of VLCFAs.

5 Treatment

There are no treatment strategies that can provide a complete cure for Adrenoleukodystrophy. Treatment mainly focuses on relieving the symptoms of the disease.

The treatment options are:

  • Stem cell transplant – stem cell transplantation helps in stopping or slowing down the progression of ALD.
  • Hormone replacement therapy – steroids are administered to treat adrenal gland insufficiency
  • Medications – seizures, stiffness, and weakness are controlled by medications
  • Physical therapy – muscle spasms and muscle coordination are improved by physical therapy.
  • Counseling – counseling helps to understand the genetic cause of the disease and also the importance of genetic testing.

6 Alternative and Homeopathic Remedies

There are several 

Rapeseed oil, sunflower seed oil, olive oil, corn oil, and Lorenzo’s oil are commonly used for controlling symptoms of ALD.

Avoiding food high in fats and cholesterol also helps in improving symptoms.

7 Lifestyle and Coping

Genetic counseling for the patient and family is very important in understanding and coping with Adrenoleukodystrophy.

The supportive care of psychologists, educators, family and friends are beneficial.

A healthy diet with low amounts of fatty acids also helps in controlling the symptoms.

8 Risks and Complications

Adrenal crisis and comas are the two possible life-threatening complications of Adrenoleukodystrophy.

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