Dystonia
Dystonia is also known as a dystonic disorder, which can affect any part of the body, leading to symptoms such as involuntary movements, tremors, and muscle spasms. Our company stands at the forefront of rare disease research and therapy development, offering a comprehensive suite of services tailored to the unique needs of your dystonia disease research.
Overview of Dystonia
Dystonia is a complex neurological movement disorder that manifests as involuntary muscle contractions, leading to abnormal postures and repetitive movements. Dystonia can be classified into different subtypes based on the affected body regions and triggering factors, making it a challenging condition to diagnose and manage.
Fig. 1 The cellular pathway involved in genetic dystonia. (di Biase, L., et al., 2022)Pathogenesis of Dystonia
The pathogenesis of dystonia involves a combination of genetic predisposition and environmental influences. While some cases are linked to specific genetic mutations, most instances of dystonia occur sporadically without a clear family history. The disorder is believed to stem from abnormalities in the basal ganglia and its communication with other brain regions, disrupting the coordination of motor functions and leading to the characteristic symptoms seen in dystonia individuals.
Fig.2 The etiological background of dystonia. (Grutz, K., and Klein, C., 2021)Therapeutics Development of Dystonia
| Therapies | Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Dopaminergic therapy | Levodopa | A dopamine precursor | Dopamine | Approved |
| Anticholinergic therapy | Trihexyphenidyl | Blocking central cholinergic receptors | Cholinergic receptors | Phase III trials |
| Benztropine | A tropane-based DA uptake inhibitor | Acetylcholine | Phase III trials | |
| Antiseizure drugs | Carbamazepine | Modulates voltage-gated sodium channels | VGSC | Phase IV trials |
| Botulinum toxin Therapy | IncobotulinumtoxinA | Reduce muscle contractions and improve movement control | Acetylcholine | Approved |
| Other Drug Therapy | Clonazepam | A GABA-A receptor agonist | GABA-A | Clinical trials |
| Baclofen | A GABAB receptor agonist | GABAB | Clinical trials |
Our Services
With a relentless commitment to improving the lives of individuals with rare diseases, our company is at the forefront of cutting-edge research, innovation, and personalized therapeutics, providing animal models and therapeutic development platform.
Platforms of Dystonia Therapy Development
Animal Models of Dystonia
Animal models play a crucial role in understanding the intricate mechanisms underlying dystonia and in assessing potential therapy strategies. Our company provides various animal models that mimic certain aspects of dystonia, allowing for a better understanding of the disorder and the development of new therapy strategies.
Dystonia-like symptoms can be induced in animals by administering certain drugs that disrupt neurotransmitter systems. For instance, injections of dopamine receptor antagonists can induce abnormal movements resembling dystonia.
Optional Models: Kainic acid-induced model, etc.
Genetically modified animal models have been created with mutations in specific genes associated with dystonia. For example, mice with mutations in the DYT1 gene associated with dystonia have been developed.
Optional Models: Tor1atm2Wtd model, etc.
Why Choose Us
Our team of world-class scientists and experts collaborate to develop breakthrough diagnostic tools and therapies tailored to unique your needs. We offer comprehensive services from mechanism research to therapeutic evaluation, including pharmacokinetics analysis and biosafety evaluation.
If you are interested in partnering with us to advance your research endeavors in the field of dystonia, we invite you to connect with us to explore the possibilities for collaboration and innovation.
References
- di Biase, Lazzaro et al. "Dystonia Diagnosis: Clinical Neurophysiology and Genetics." Journal of clinical medicine 11.14 (2022): 4184.
- Grutz, Karen, and Christine Klein. "Dystonia updates: definition, nomenclature, clinical classification, and etiology." Journal of neural transmission 128.4 (2021): 395-404.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.