More information published in Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5) in Movement Disorders provides additional information about one of the rarest genetic movement disorders in the world, known as ADCY5. With fewer than 400 to 450 known cases globally, researchers are working to better understand not only the physical symptoms of the disease, but also the emotional, psychological, and motivational challenges that many patients quietly face. In their bid to understand the disease, studies like this are trying to fill the information gap about ADCY5 and trying to discover the links between the physical and emotional symptoms patients suffer. Since ADCY5 is the result of a genetic mutation, researchers are increasingly viewing it as a whole-brain disorder that, like Huntington’s disease, can affect not only movement, but also mood, motivation, and behavior.
The results of this research find that emotions like depression, anxiety, and apathy in patients with the ADCY5-related movement disorder (ADCY5-RMD) or mixed movement disorders ADCY5 (MxMD-ADCY5) aren’t just reactions to a disability they have to live with, but may be part of the disorder itself, not just reactions to living with a disability. Given the limited number of cases of those with the disease, the authors point out “there have been anecdotal reports of anxiety, depression… but no systematic study has been performed” using standardized tools, leaving many facts about ADCY5 unclear.
While the study was limited to 27 patients, with symptom scales completed by 21 patients, the results laid out good reasons why mental health screening and support should be part of routine care for those with the disorder. Patients showed a variety of disorders ranging from anxiety, panic attacks, psychiatric disorders, social phobia, with rare cases of Obsessive-compulsive disorder and addiction problems.
The overall severity of those who participated in the study highlights higher rates of mental health diagnoses for each patient and points to consistently higher rates of emotional and motivational symptoms. While most scores were not in the severe range, they were consistently elevated, pointing to chronic, ongoing difficulties rather than temporary stressful reactions to given situations.
The findings suggest that depression, anxiety, and apathy in ADCY5 are not just emotional reactions to disability, but appear to be part of how the disease affects the brain.
One of the most significant findings involved apathy (or indifference), characterized by patients who showed low motivation and emotional flatness. Apathy was found in a third of the group tested, with little emotional engagement lacking motivation in daily activities. Researchers in the study point out that these weren’t patients suffering from depression and expressed that it was a separate symptom of how ADCY5 affects the motivation and reward centers of the brain. This suggests that patients may struggle with energy, focus, and emotional drive, even when they do not feel sad or anxious.
The results overwhelmingly point to a need to understand the broad range of emotions someone who lives with ADCY5, and treat each of their symptoms: anxiety, depression, and apathy as a core part of the disorder.
The researchers in this study go on to say that while it cannot be proven whether mental health symptoms are a direct cause of ADCY5 or a combined reaction to living with the disorder. Their analysis suggests that depression, anxiety, and apathy are not simply linked to the severity of a person’s physical symptoms.
In other words, when they looked closely at the data, they found that people who had more extreme physical problems weren’t likely to have more extreme mental health symptoms. Pointing to the possibility that these mental health challenges are connected to changes in the brain itself.
“This research reframes ADCY5 as a whole-brain disorder—one that shapes movement, mood, and motivation at the same time.”Researchers conclude, “As in other hyperkinetic movement disorders, psychiatric comorbidities appear to contribute substantially to the disease burden in MxMD-ADCY5, and should be systematically screened for in clinical practice.”
By identifying and recognizing depression, anxiety, and apathy as core features of the ADCY5, it provides invaluable options to help treat those with the disease. Those who participated in the study have helped the few others like them, and those who are newly diagnosed, offer an olive branch into future treatments that could help ease symptoms until more beneficial treatments can become available. If you want to learn more or donate to research for ADCY5, you can go to ADCY5.org
