Rare Diseases Symptoms Automatic Extraction

[A man with progressive spastic paraparesis].


Adrenomyeloneuropathy is an X-linked disease caused by defects in the ABCD1 gene, which encodes the ALD protein (a peroxisome membrane transport protein). Deficiency of the ALD protein impairs the breakdown of very long chain fatty acids (VLCFA) that subsequently accumulate. The disease can present with spastic paraplegia, adrenocortical failure, or a combination of both. Spastic paraplegia can be inherited as well as acquired and is seen relatively often in neurological practice. Precise diagnosis is important as it provides information on prognosis and treatment, and allows at-risk family members to be identified.The case history of a man with adrenomyeloneuropathy is presented, and relevant literature concerning pathogenesis, clinical presentation and treatment of the disease was retrieved from Medline and reviewed.Adrenomyeloneuropathy is often accompanied by mild peripheral neuropathy or adrenal failure and usually presents in young men with spastic paraplegia. Female carriers may also manifest clinical symptoms. Screening for VLCFA is widely available and performed in blood samples. Specific diagnosis requires measurement of the VLCFAs; C26, C24 and C22, confirmation of absent ALD protein or the finding of a specific gene mutation. In addition to hormone replacement for adrenal failure, treatment is limited to standard spasmolytic agents and physical therapy. More specific treatments are currently being tested.