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Symptoms of Adrenoleukodystrophy

Adrenoleukodystrophy symptoms range from neurological impairments like vision loss and seizures to hormonal imbalances, including adrenal insufficiency. The progression varies depending on the type, and early genetic testing and intervention are crucial for managing symptoms and slowing the disease’s course.

  • 07 Jan 2025
  • 3 min read
  • 15 views

Adrenoleukodystrophy (ALD) is a rare genetic disorder caused by mutations in the ABCD-1 gene on the X chromosome. It impacts the myelin sheath, a protective layer around nerve cells in the brain and spinal cord, damaging the nervous system. 

What are the Symptoms of Adrenoleukodystrophy?

All patients of ALD are asymptomatic for the first few years of life. Males may begin to exhibit some symptoms during childhood and adolescence. By the age of 50, almost all ALD-affected individuals develop at least one of the symptoms of adrenoleukodystrophy. Females may also exhibit weakness and bowel incontinence in adulthood.

The symptoms of childhood cerebral adrenoleukodystrophy (cCALD) include:

  • Behavioural problems
  • Attention deficit/hyperactivity disorder (ADHD)
  • Poor handwriting skills
  • Difficulty in reading and understanding speech
  • Problems in comprehending written text
  • Clumsiness
  • Poor spatial orientation
  • Aggressive behaviour
  • Double vision

Adrenomyeloneuropathy (AMN) is the most common type of ALD that affects men and women by the time they reach their 40s. The symptoms of AMN include:

  • Tingling in the feet
  • Clumsy walking style
  • Tightness in muscles
  • Impaired balance
  • Loss of strength
  • Difficulty sensing vibrations
  • Bowel and bladder dysfunction
  • Sexual troubles
  • Poor performance of adrenocortical hormone

Addison's disease, or adrenal insufficiency, is the next most common type of ALD. ALD symptoms include:

  • Weakness and fatigue
  • Nausea
  • Low blood pressure
  • Low blood sugar
  • Weight loss
  • Vomiting
  • Hyperpigmentation of the skin 

About two-thirds of men with ALD experience cerebral ALD (CALD). This condition is rare in women. The symptoms of CALD include:

  • Problems with vision
  • Poor attention
  • Behavioural problems
  • Poor coordination

Conclusion

If the symptoms of adrenoleukodystrophy are left untreated, they may induce a person into a vegetative state or even death. Early diagnosis of mutations in the ABCD-1 gene may help treat ALD effectively. ALD may be a rare genetic disorder, but you never know whether you are also affected until the symptoms begin showing and making life miserable. Hence, it is always better to be safe; nothing beats health insurance to help make life easy. 


Disclaimer: The information provided in this blog is for educational and informational purposes only. It is not intended as a substitute for professional advice, diagnosis, or treatment. Please consult your general physician or another certified medical professional for any questions regarding a medical condition. Relying on any information provided in this blog is solely at your own risk, and ICICI Lombard is not responsible for any effects or consequences resulting from the use of the information shared.

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