X-Linked Adrenoleukodystrophy
What is X-Linked Adrenloeukodystrophy
ALD is an X-Linked disorder that affects 1 in 18,000 people. There are 3 phenotypes that can be seen. It primarily affects males. It is a brain disorder that attacks the myelin sheath on axons. This is the protective layer that surrounds the axons in neurons in the brain. The nerve cells that are attacked are those that affect the muscles and those that allow us to think. It primarily occurs at a young age and your health can spiral down in a matter of a couple of years [1].
ALD is an X-Linked disorder that affects 1 in 18,000 people. There are 3 phenotypes that can be seen. It primarily affects males. It is a brain disorder that attacks the myelin sheath on axons. This is the protective layer that surrounds the axons in neurons in the brain. The nerve cells that are attacked are those that affect the muscles and those that allow us to think. It primarily occurs at a young age and your health can spiral down in a matter of a couple of years [1].
Who does this affect?
ALD is primarily seen in males and can be seen at variety of ages. The childhood form occurs between 4 to 8 years of age. The second form, called Adrenomyeloneuropathy (AMN), occurs in your early twenties or middle age. The last form that can be seen is Addison Disease. This can happen between the ages of 2 and adulthood. Females do get ALD, but the phenotype is not as severe [1].
Symptoms
Childhood ALD: initial stages resemble ADD or hypersensitivity as well as progressive impairment of cognition, behavior, vision, hearing, and motor function. The patient can become completely disabled within a matter of 6 months to 2 years [4].
AMN: this starts with progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function. Unlike, childhood ALD, these symptoms span decades [4].
Addison's Disease: can start with primary adrenocorticol. Doesn't show signs of neurologic problems compared to the other two prototypes. There will be some neurologic disablity as they get older [4].
AMN: this starts with progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function. Unlike, childhood ALD, these symptoms span decades [4].
Addison's Disease: can start with primary adrenocorticol. Doesn't show signs of neurologic problems compared to the other two prototypes. There will be some neurologic disablity as they get older [4].
Diagnosis
The diagnosis is based on your symptoms as well as your medical and family history. Given that there are three variations, there are a lot of factors to look into. Blood testing, MRI, vision screening, and skin biopsy are various methods to check for the disease [2].
Treatment
There is no cure for X-ALD, but there are many ways to slow down the progression of the disease. A great example of this is with the use of stem cell therapy. Adrenal insufficiency is a problem associated with X-ALD and can be treated with the use of steroids. Other treatments include medicine and physical therapy which can alleviate some symptoms [2].