Breakthrough in Treating Rare Muscle Disease: ADCY5-Related Dyskinesia
Central Germany Holds Hope for Rare Muscular Disorder Sufferers
June 4th, 2025 – 13:04
A glimmer of hope swells for those suffering from ADCY5-related dyskinesia, a seldom-seen muscle disorder. A team of researchers from Martin Luther University Halle-Wittenberg and Leipzig University have found a promising treatment: theophylline, an asthma medication, and istradefylline, a Parkinson's drug yet to be approved in Europe. These drugs seem to alleviate symptoms of the muscle disorder, offering a potential reprieve for affected individuals.
ADCY5-related dyskinesia is one of an extensive list of rare diseases. A flaw in the ADCY5 gene triggers this condition, creating an overactive enzyme, cyclic AMP, in cells. This imbalance leads to uncontrollable movements, spasms, and speech impairments. Current medications for the disease are plagued by severe side effects.
From Coffee to Discovery
A person with the gene defect found that coffee seemed to provide some relief. Building on this clue, the Central German research team identified existing medications with a similar structure to caffeine but without the stimulant effects. They discovered the asthma drug theophylline and the Parkinson's medication istradefylline. Both drugs are known to reduce the production of cyclic AMP in cells. In a case study with a child, theophylline demonstrated remarkable results.
Encouraging Results with Few Side Effects
Dr. Andrea Sinz, Professor at Halle University's Institute of Pharmacy, shares that the child was given the drug with the parents' consent. The child, previously confined to a wheelchair, found relief as tremors and uncontrollable movements lessened. They could sit upright, walk, and speak more clearly. After several months, the child managed to stand from a wheelchair and walk on their own. No serious side effects were reported. The team is now testing these medications on other children with ADCY5-related dyskinesia.
A Hidden Battle
Approximately 300 people in the US and many more undiagnosed individuals live with this condition. Dr. Sinz believes there are numerous undiagnosed cases, as the genetic defect is so rare that it may not always be correctly identified and diagnosed.
Read More
For a comprehensive understanding of the study and its implications, read "Effects of theophylline on ADCY5 activation-From cellular studies to improved therapeutic options for ADCY5-related dyskinesia patients".
Support Organizations
Navigating rare diseases can be challenging. Rare Disease Day is on February 28, a day dedicated to raising awareness, accelerating research, and improving patient care. Find support and connect with others affected by rare diseases at the following resources:
Rare Disease Day: Where to Find Help
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The asthma medication theophylline and Parkinson's drug istradefylline, which were discovered by a team of researchers, have shown promising results for treating ADCY5-related dyskinesia, a seldom-seen muscle disorder. These drugs, known for reducing the production of cyclic AMP in cells, could potentially alleviate symptoms and provide a reprieve for affected individuals, offering a significant advancement in health-and-wellness and mental-health, specifically in therapies-and-treatments for rare diseases like ADCY5-related dyskinesia.
