TOGETHER AGAINST ADLD
Welcome!
The ADLD Association was established in 2020 and operates in the field of scientific research with a particular social interest, pursuing the following objectives: to provide information on issues related to Autosomal Dominant Leukodystrophy (ADLD) and to fund scientific research; to bring together patients, raise awareness about the disease, and facilitate dialogue among the doctors involved; to disseminate knowledge about the disease in both the medical-scientific and public domains. The ADLD Association aims to serve as a reference point for gathering information, reports, and issues related to individuals affected by Autosomal Dominant Leukodystrophy, in order to understand the actual needs of the patients and their families. Among the objectives of the Association is also the continuous updating on scientific discoveries that open new perspectives for research, moving towards the identification of new pharmacological therapies, as well as improving the diagnostic and therapeutic pathway for the patients.
Video
“Simple as drinking a glass of water,” is a common saying used to convey how easy an action can be. But it’s not always the case. For example, for Domenico, drinking a glass of water is not simple at all. His hand trembles, and he can’t even bring it to his mouth. Just like it wasn’t easy at first to understand what disease was preventing him from even performing basic movements or forcing him to stay home due to an overly reactive bladder. As often happens with rare diseases, the diagnosis always comes after a rather arduous process. In Domenico’s case, before the name Adult-Onset Autosomal Dominant Leukodystrophy (ADLD) was mentioned, the initial hypothesis was multiple sclerosis. After all, it is always a neurodegenerative disease that occurs in adult patients, as the name suggests, generally over the age of 30-40. ADLD is characterized by the loss of white matter in the central nervous system, leading to movement disorders and severe alterations in the autonomic nervous system, such as the inability to maintain proper blood pressure and body temperature, and incontinence. Generally, ADLD manifests as a dysautonomia: “In patients, the autonomic nervous system, which controls actions that are outside of voluntary control, such as regulating blood pressure, bowel movements, and maintaining proper body temperature, stops working. In this early stage, high fevers can also occur. After a few years, the first cerebellar symptoms arise, and patients begin to experience tremors and difficulty in walking. Their lives change completely.”
