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Neuromuscular Junction Disease

Neuromuscular junction disease is characterized by impaired or disrupted normal conduction through the neuromuscular junction. Our company boasts a highly skilled team of researchers and scientists who possess extensive expertise in the study of neuromuscular junction disease. This expertise serves as the cornerstone for the development of groundbreaking diagnostic tools and therapeutic drugs. As your reliable and trusted partner, we offer a comprehensive suite of services tailored to meet your specific scientific research requirements.

Overview of Neuromuscular Junction Disease

The neuromuscular junction is a crucial connection between nerve cells and muscles, playing a pivotal role in facilitating muscle movement. However, when disorders disrupt the normal functioning of this junction, it leads to various neuromuscular junction diseases. These conditions encompass a range of disorders that affect the communication between motor neurons and muscles, resulting in muscle weakness, atrophy, and impaired movement.

The two most prevalent neuromuscular junction diseases are myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS). Among them, MG has an estimated incidence rate of 4.1 to 30 cases per million person-years. LEMS is even rarer, with a global prevalence of approximately 2.8 per million individuals. The pathogenesis of neuromuscular junction diseases involves autoimmune and genetic factors. For example, MG is primarily caused by autoantibodies targeting acetylcholine receptors. Congenital myasthenic syndrome is a genetic disease mainly related to mutations in specific genes.

Fig. 1 Neuromuscular transmission and immunopathogenesis of neuromuscular junction disorders.Fig. 1 Neuromuscular transmission and immunopathogenesis of neuromuscular junction disorders. (Jacob, Saiju., 2023)

Diagnostics Development of Neuromuscular Junction Disease

Comprehensive evaluation and thorough examination facilitate accurate diagnosis and early intervention of neuromuscular junction diseases. The main diagnostic methods are as follows:

  • Symptom assessment involves a thorough examination of muscle strength, reflexes, and coordination.
  • Electromyography (EMG) and nerve conduction studies provide valuable insights into nerve and muscle function.
  • Magnetic resonance imaging (MRI) helps visualize structural abnormalities in the nervous system.
  • Genetic testing can identify specific genetic mutations associated with neuromuscular junction disorders.

Therapeutics Development of Neuromuscular Junction Disease

  • Targets of Neuromuscular Junction Disease Therapy Development
Target Description
Preservation and Maintenance of Motor Neurons Neuroprotective strategies involving the use of antioxidants, anti-inflammatory agents, and excitotoxicity inhibitors can be employed to mitigate oxidative stress, neuroinflammation, and excitotoxicity. These approaches aim to slow down or prevent the degeneration of motor neurons and preserve muscle function.
Communication pathways between motor neurons and muscles Therapeutic development also focuses on improving the communication between motor neurons and muscles at the neuromuscular junction. Enhancing neurotransmission and promoting muscle fiber contraction are crucial goals. Strategies may involve modulating neurotransmitter release, promoting synaptic stability, or enhancing muscle contractility.
  • Types of Neuromuscular Junction Disease Therapy Development
  • Gene Therapy
    Gene therapy holds promise as a potential therapy for specific neuromuscular junction disorders associated with genetic variations. The therapy involves the introduction of functional genes into affected cells, aiming to rectify the underlying genetic abnormalities responsible for the development of the disease.

Our Services

Our company leads the way in rare disease research and therapeutic development. We are committed to providing a comprehensive and integrated solution for diagnostic research and the development of therapeutics for neuromuscular junction disease.

Diagnostic Development Service

Our company provides diagnostic development services to assist you in developing advanced diagnostic tools for neuromuscular junction disease to facilitate early identification and accurate diagnosis of the disease. Accurate diagnosis plays a key role in guiding therapeutic decisions and improving prognosis.

Therapeutic Development Service

Our company provides a wide range of services for the development of small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein to accelerate your research on neuromuscular junction disease therapies.

Animal Model Development Service

We are proud to offer our expertise in the development of highly tailored animal disease models designed specifically for neuromuscular junction diseases. These models are invaluable tools that enable and expedite the safety evaluation and pharmacokinetics study of your drug candidates.

Animal Models of Neuromuscular Junction Disease

Genetically Engineered Models
At our company, we specialize in developing genetically engineered models for neuromuscular junction disease research. Our expertise in genetic engineering techniques, such as CRISPR/Cas9 technology, allows us to generate accurate and reliable models that recapitulate the genetic alterations observed in human neuromuscular junction disease.
Optional Models
  • SCCMS Model
  • MuSK Knockout Model
  • Rapsyn Knockout Model
  • DOK7 Knockout Model
  • COLQ Knockout Model
  • Agrin Knockout Model
Optional Species Mice, Zebrafish, Rats, Others

No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.


  • Jacob, Saiju. "Complement inhibition in Myasthenia–from basics to RCT data." RRNMF Neuromuscular Journal 4.3 (2023).
  • Webster, Richard G. "Animal models of the neuromuscular junction, vitally informative for understanding function and the molecular mechanisms of congenital myasthenic syndromes." International journal of molecular sciences 19.5 (2018): 1326.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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