Monomelic Amyotrophy (MMA)
The low prevalence of monomelic amyotrophy (MMA), alongside its poorly understood pathophysiology and absence of established animal models, makes developing treatments particularly difficult. Protheragen is devoted to solving the challenges in diagnostic and therapeutic development with innovative solutions to tackle MMA management comprehensively. As your trusted collaborator in MMA therapeutic investigation, we offer bulk and top-tier services that fulfill all your scientific research requirements.
Overview of Monomelic Amyotrophy (MMA)
Monomelic amyotrophy (MMA), also known as Hirayama disease or juvenile segmental spinal muscular atrophy, is a rare lower motor neuron (LMN) disorder characterized by asymmetric, focal weakness and atrophy of the upper limbs (C7-T1 myotomes), typically sparing sensory and bulbar function. The disease predominantly affects young males (15–25 years) of Asian descent, with a self-limiting course that stabilizes within 2–5 years.
Fig.1 A patient with significant atrophy of the right proximal muscles of the upper extremity and his cervical flexion MRI. (Wang H, et al., 2022)
Pathogenesis of Monomelic Amyotrophy (MMA)
Monomelic amyotrophy (MMA) develops from dynamic mechanical compression of the cervical spinal cord whilst one's neck is bent forward, causing chronic ischemic damage to the anterior horn cells due to posterior dural displacement and engorgement of the epidural venous plexus. These small but repetitive injuries induce oxidative stress along with mitochondrial dysfunction which results in selective motor neuron degeneration within the C7-T1 myotomes. This process might be further worsened by genetic predispositions together with neuroinflammation denoted by increased IL-6/TNF-α levels.
Therapeutic Development for Monomelic Amyotrophy (MMA)
The treatment of monomelic amyotrophy (MMA) primarily focuses on managing symptoms and preventing further progression, as there is no specific cure for the condition.
| Therapy | Mechanism of Action | Targets | Research Phase |
| Physical Therapy | Utilizes exercises and manual techniques to enhance muscle strength, flexibility, and coordination in the affected limb. | / | / |
| AAV-Mediated Gene Therapy | Uses adeno-associated virus (AAV) vectors to deliver therapeutic genes, potentially correcting or compensating for genetic defects. | Specific genes implicated in motor neuron survival/function | Preclinical |
| Stem Cell Transplantation | Involves implanting stem cells that can differentiate into neurons or support neuronal environment, promoting repair and regeneration. | Damaged motor neurons | Phase I/II |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
With Protheragen leading the way in research on lower motor neuron diseases (LMND), the company offers comprehensive preclinical services to advance monomelic amyotrophy (MMA) therapeutics from discovery through validation. Using specialized platforms, we perform genetic and model-based analysis of tissues to recreate pathologies with high fidelity for advanced disease modeling. Intensive study of neuroprotection alongside evaluation of potential off-target effects is performed while optimizing drug delivery using sophisticated blood-brain barrier (BBB) models.
Therapeutic Development Services
By Molecule Types
At Protheragen, we are leading the way in creating multifaceted molecular treatments for monomelic amyotrophy (MMA) disorder. The most encouraging breakthroughs take advantage of modern scientific innovations to formulate and provide personalized treatments that resolve the underlying issues of MMA.
By Mechanism of Action
We aim to understand the different mechanisms at play in monomelic amyotrophy (MMA) so that we may design customized treatments to alleviate the illness and enhance the quality of life for our patients.
Disease Model Development Services
In Vitro Model
Development
Development
- Dynamic Cervical Compression Model: Mechanical compression of the cervical spinal cord to mimic flexion-induced ischemia.
- SOD1 Transgenic Model: Overexpression of mutant SOD1 (e.g., SOD1G93A) to mimic motor neuron degeneration.
Protheragen takes pride in offering comprehensive preclinical research services for monomelic amyotrophy (MMA) using advanced disease models. These services encompass various aspects of drug research, including pharmacodynamics (PD), pharmacokinetics (PK), and safety evaluations, ensuring a holistic approach towards drug development in this challenging medical area. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Wang H, Tian Y, Wu J, et al. Update on the pathogenesis, clinical diagnosis, and treatment of Hirayama disease[J]. Frontiers in neurology, 2022, 12: 811943.