X-linked adrenoleukodystrophy
What is it?
X-linked adrenoleukodystrophy is a genetic disease that affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disease often have progressive loss of the fatty covering (myelin) that surrounds the nerves in the brain and spinal cord. This is called adrenocortical insufficiency, or Addison disease. There are three forms of X-ALD: a childhood cerebral form, an adrenomyeloneuropathy (AMN) type, and an adrenal-insufficiency-only-type. The disease primarily affects males.
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X-linked adrenoleukodystrophy.
Additional names
This group contains additional names:
- X-LAD
Signs & symptoms
The signs and symptoms can vary widely. Some individuals have severe complications in infancy or childhood, while others develop symptoms as adults. Some individuals do not develop symptoms (asymptomatic) until adulthood. The progression of the disorder can also vary.
Diagnosis
A diagnosis of X-linked adrenoleukodystrophy is based upon identifying characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized tests.
Treatment
Treatment may require the coordinated efforts of a team of specialists. Pediatricians, general internists, physicians who specialize in diagnosing and treating disorders of the brain and nervous system (pediatric neurologists), adult neurologists, physicians who specialize in diagnosing and treating disorders of the urinary system (urologists), physicians who specialize in diagnosing and treating disorders of the endocrine system (endocrinologists), psychiatrists, physical therapists, and other healthcare professionals may need to systematically and comprehensively plan treatment.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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