What is Adrenoleukodystrophy, or ALD?
Adrenoleukodystrophy, or ALD, is an X-linked recessive genetic disease that affects the nervous system and adrenal glands characterized by the breakdown or loss of myelin and progressive dysfunction of the adrenal gland.
What is a genetic disorder?
Genetic disorder is caused by the mutation in part of the DNA.
The most common type of ALD is X- linked which is caused by genetic defect in X chromosome. X- linked ALD affects males more than females.
What are the different types of ALD?
Three main types of Adrenoleukodystrophy are:-
- Childhood cerebral ALD
- Adrenomyelopathy or Adult- onset ALD
- ALD plus Addison
1. Childhood cerebral ALD:-
It is a rare genetic disorder that affects nervous system and adrenal glands of children between 3-10 years of age.
Its symptoms worsen over time and can lead to severe neurological deficits.
It mainly affects males while females can be carrier.
2. ALD plus Addison’s disease:-
It may affect the adrenal gland leading to adrenal insuffiency or Addison disease. In this condition adrenal gland often fails to produce enough cortisol, causing low blood pressure, fatigue, weight loss.
3. Adrenomyeloneuropathy:-
It is an adult form of adrenoleukodystrophy which begins between age 21 and 35. These patients have both adrenal and neurological symptoms.
It progresses more slowly then childhood cerebral ALD.
Who is more prone to develop ALD?
Hereditary:-Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait.
Gender This is an X-linked genetic disease so it affects mostly males, although some women who are carriers can have milder forms of the disease.
Prevalence in races:- It affects approximately 1 in 20,000 people from all races.
How to categorize ALD?
ALD can be categorized into the following types:
• Childhood cerebral form — 4-8 age group
• Adrenomyelopathy — 20 or later in life, usually in men.
• Addison disease or Addison-like phenotype that is Impaired adrenal gland function — adrenal gland does not produce enough steroid hormones
What are the signs and symptoms depending on various stages of life?
Depending on the stages of life ALD
Childhood cerebral type:
- Muscle tonicity and spasticity changes are observed.
- Crossed eyes (strabismus)
- Decreased understanding of verbal communication (aphasia)
- Deterioration of handwriting
- Difficulty at school
- Difficulty understanding spoke material
- Hearing loss
- Hyperactivity
- Worsening nervous system deterioration
- Coma
- Decreased fine motor control
- Paralysis
- Seizures
- Swallowing difficulties
- Visual impairment or blindness
Adrenomyelopathy:
- Difficulty controlling urination
- Possible worsening muscle weakness or leg stiffness
- Problems with thinking speed and visual memory
Adrenal gland failure (Addison type):
- Coma
- Decreased appetite
- Increased skin color (pigmentation)
- Loss of weight, muscle mass(wasting)
- Muscle weakness
- Vomiting
How to Diagnose Adrenoleukodystrophy?
- Blood levels:- To measure levels of VLCFA.
- The Chromosome study for observing changes (mutations) in the ABCD1 gene
- MRI of the head:- It is done to see how ALD has affected the brain.
- ACTH stimulation test:- This test is done to check functioning of adrenal gland.
What is the prognosis of ALD?
• Adrenal crisis
• Vegetative state (long-term coma)
• Survival is 10 years until death occurs.
What homeopathic medicines can be prescribed for ALD?
Homeopathic medicines are prescribed on the basis of symptoms given by patients. Some of the homeopathic medicines prescribed in Adrenoleukodystrophy are as follows:-
- Zincum met:- Tearing pain in limbs. Visible quivering and jerking in different parts of the muscles.
- Silicea: Paralytic weakness of the forearm. Icy cold and sweaty feet.
- Gelsemium: Fatigue after slight exercise. Excessive trembling and weakness of limbs.
- Baryta Carb: Hands cold with bluish spots. Pain in the joints of foot as from a sprain.
- Calcarea Carb: Swelling of joints esp. knees. Burning of soles of feet. The feet feel cold and dead at night.
- Causticum: Unsteady walking and easy falling. Paralysis of single parts.
