ALD is the TLA for Adrenoleukodystrophy, a rare genetic disorder that primarily impacts boys and men and attacks the CNS. Women can get a milder version later in life, but some are asymptomatic and become silent carriers.
In men, ALD can impact the Adrenal glands causing primary Adrenal Insufficiency (AI), often referred to as Addison’s Disease. Cerebral ALD typically impacts boys between the ages of 4-10 and causes inflammatory demyelination of the brain. If left untreated it is fatal within a few years, but it can be treated with a risky bone marrow transplant procedure. Boys who don’t get CALD usually have AI as kids and often get Adrenomyeloneuropathy (AMN) starting around age 30 which comes from demyelination of the spinal cord and inevitably leads to paraparesis (loss of use of both legs).
ALD is hereditary and is caused by a variant/mutation of the ABCD1 gene found on the X-chromosome that leads to the accumulation of Very Long Chain Fatty Acids (VLCFAs) which are toxic to specific cell types. Boys can inherit the ABCD1 variant from their mother only, but girls can inherit it from their mother or father.
I have the ABCD1 variant as does my older brother, and while he has AI and AMN, neither of us had CALD as children, which is fortunate since there was no BMT treatment back in the 1960s. At age 66 I remain completely asymptomatic, which the doctors can’t explain since I have the same genetic variant and elevated VLCFAs as my brother. Both my brother and I have annual brain MRIs since CALD can sometimes occur in adults, but it’s less likely to occur as we get older.
Does anyone else on this board have ALD in their family? Does anyone have any questions about ALD I might be able to answer?