Together we will turn the corner on ADLD.
Although ADLD is very rare, there are estimated to be thousands of ADLD patients worldwide. We created the ADLD Center in part so that we can all unite and fight together! Collectively, we will be able to catalyze change by sharing our knowledge and experiences, as well as by advocating for research and therapies.
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We will share everything from recent advances in medicine to interviews with patients to learn what regiment has been most successful for them.
What is ADLD?
Autosomal Dominant Leukodystrophy (ADLD) is a genetic disorder that presents symptoms in the fourth or fifth decade of life due to nerve damage (demyelination) that slowly progresses. Symptoms often includes bowel or bladder dysfunction, male impotence, loss of fine motor skills, and the type of blood pressure problem (orthostatic hypotension) that makes you feel dizzy when you suddenly stand up. Later symptoms include difficulties using and controlling legs and arms, eventually leading to paralysis and problems swallowing. Intellectual impairment usually does not develop until a very late stage. ADLD is a fatal disorder, but it is slowly progressive; patients often survive for several decades.
ADLD is an autosomal dominant genetic disorder, which means that each child from a parent with ADLD has a 50% chance of developing ADLD as well. Although ADLD is very rare, with an estimated frequency of one in a million, ADLD patients have been reported in countries in the Americas, Europe, and Asia. The genetic basis of ADLD differs between many families, indicating that they arose independently.
ADLD is caused by mutations of a gene called LMNB1 that encodes for a protein called LaminB1. LaminB1 is a protein that is present in every cell in the body and plays an essential role in various processes. The mutations in the LMNB1 gene result in levels of LaminB1 protein that are too high. Although LaminB1 is present in all cells in the body, in ADLD, high levels of LaminB1 mainly cause problems in the brain and spinal cord. In these ares, high levels of LaminB1 result in the loss of a protective layer (the myelin sheath) around the nerves. Without this layer, the nerves get damaged and lose their ability to work properly.
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