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Motor Neuron Disease (MND) is a slowly progressive neuromuscular ailment targeting the motor nerve cells accountable for regulating muscle movements. Consequently, there is a gradual loss of strength in these muscles, resulting in their atrophy as well as the paralysis of these limbs once these cells degenerate. Though there is no clear known reason for why this condition occurs, recognizing it early may be more helpful in managing the disease or even having a better life. 

This blog post will delve into the first signs of MND, the best treatment for motor neurone disease, stem cell therapy for its treatment, and fascinating improvements due to the early diagnosis.

Early Signs of MND that One Should Never Ignore

The complete manifestation of MND disease symptoms takes time. And even if there are visible signs, we might turn a blind eye to them because they are so subtle. But you might be curious to know:

Here is a list of a few early signs that MND is slowly creeping in:

  • Weakness in your ankle or leg
  • Slurring of your speech
  • Difficulty swallowing some foods
  • A gradual decrease in your grip strength
  • Muscle cramps and twitches in your limbs or near chest area
  • Weight loss in your arm and leg muscles thinner
  • Emotional outbursts that are not controlled

Most of the time, we relate these MND disease symptoms to other conditions and do not pursue them to get a better insight into what is causing them. Moreover, there is not a single test that can be done to find out if someone has MND. The person must go to a neurologist and undergo tests to rule out other cases.

Note: MND is a term that encompasses several types of diseases that affect an individual’s motor neurons. There are a few genetic tests available for subtypes of MND, namely SMA, Kennedy’s disease, and some genetic causes of ALS. These cases are very rare, and before advising on these tests, the neurologist ensures that you have the symptoms due to MND.

How do doctors diagnose MND?

If you notice MND disease symptoms, you can start by visiting a physician. Following an examination they may refer you to a neurologist if they suspect nerve or brain-related issues. Upon consultation, with the neurologist, they will conduct several tests to investigate and diagnose MND. The recommended tests may include;

  • Physical Examination: This involves assessing motor and sensory functions, hearing, speech, reflexes, vision, coordination, cognition, mood changes, and behavioral shifts. It covers an evaluation of your body.
  • Blood Test: During this test, the doctors will analyze creatine kinase levels in your blood. Creatine kinase is released when muscle tissue breaks down; however, elevated levels could be indicative of other conditions.
  • Electromyography (EMG): This test helps the neurologist understand how nerve signals travel through muscles. EMG is often paired with a nerve conduction study to evaluate the speed at which signals move through nerves. It examines the muscle’s activity both during movement and, at rest to identify any issues and transmit the signal through the motor nerves.
  • MRI: Getting an MRI for MND is recommended to rule out conditions that share symptoms with MNDs, like brain and spinal cord tumors, inflammation, infections and vascular abnormalities that could result in a stroke.

Diagnostic Developments in the Early Detection of ALS/MND

With the modernization of medicine, we have a better understanding of what causes MND or ALS. In familial MND cases, we find that there is almost always a genetic disorder associated with the disease. Doctors look for four genes, namely C9orf72, SOD1, FUS and TARDBP. These four genes become faulty (they get mutations) and do not function as intended. Because of these faulty genes, there are major issues in motor neuron interactions causing all the signs and symptoms related to MND. But doctors are using these genes to develop more targeted diagnostic tools for the disease.

Your neurologist might ask you to undergo genetic testing. The process is relatively simple. All you have to do is submit your blood and, in some cases, saliva to the lab technician, who will test it for MND. They basically test your blood or saliva for presence of faulty genes that we mentioned earlier.

So, there are two types of genetic testing that are performed based on your familial medical history. The first is “diagnostic genetic testing.” It is done if your case is sporadic and no one in your family has been diagnosed with MND. The second is “predictive genetic testing,” which is done when there is an existing case in family. The latter is done as a means of precaution so that the condition is diagnosed early for a better lifestyle.

Note: Out of all the four genes, the SOD1 gene is associated with the majority of cases of familial ALS. Worldwide, mutations (gene faults) in the SOD1 gene are reported to cause about 15 to 20 percent of familial ALS. Moreover, TARDBP and FUS gene mutations are each present in 5 percent of cases.

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Benefits of Early Detection of MND or ALS

If you get an early diagnosis of the condition, your neurologist will prescribe you some medications, like Riluzole and anti-oxidants, to ensure that there is minimal effect on your lifestyle. However, since MND is a progressive disease that gets worse over time, the effectiveness of medications decreases. The individual diagnosed with MND becomes increasingly dependent on a caregiver or family. As the condition spreads throughout the body, there is an increased need for respiratory care. They might even need to use mechanical assistance to go from A to B.

Stem Cell Therapy and Exosomes

Interestingly, doctors are turning to use of regenerative medicine to help MND or ALS patients. They are employing the body’s natural healing ability to help alleviate the symptoms of the disease.

But, you might ask, “Why stem cells?” Stem cells are body’s undifferentiated cells that have the capability to transform (differentiate) into multiple cell types, upon receiving the correct signal. In other words, they are the repair unit of human body that help us remove any damage to the body. They are very potent and have been shown to transform into neurons, muscle cells, and even bone cells. The potential to treat MND lies within them.

Additionally, stem cells are also known to secrete nano-sized vesicles, called exosomes. These vesicles are loaded with similar constituents as the stem cells and secreted

But what is interesting is that these vesicles have several proteins’ blueprints. These proteins are capable of high repair and rejuvenation in the target cells.

Exosomes in MND

Interestingly, researchers have shown that these vesciles carry components to silence faulty genes that cause MND. In other words, exosomes are capable of regulating whether SOD1 protein will be present in the cells or not. It makes them capable of removing faulty genes from the target cells. Once the faulty genes are flushed out of the cells, the correct proteins replace them. It aids in the body’s healing from the damage the condition has caused.

Several studies have come to light that have shown that exosomes play crucial role in regulating the immune response, addressing mitochondrial dysfunction, and boosting neuroprotection in MND. Researchers have used stem cell derived exosomes in mice and saw that they were capable of

  • Slowing disease progression
  • Improving motor performance
  • Restoring mitochondrial activity
  • Reducing SOD1 aggregates in brain cells.
  • Targeting lesioned brain areas
  • Providing endothelial cell protection

Exosomes’ capacity for simple internalization by cells is another intriguing feature that makes them so alluring. They are also capable of bypassing the blood-brain barrier (BBB) and enhancing drug targeting in ALS treatment. Although they are still undergoing research and it is opening doors for developing the best treatment for motor neurone disease.

Even though the recovery will not be 100%, it will provide people with more freedom to live a happier life. The documented cases are indicative of following positive signs post  MND or ALS stem cell therapy:

  • Better respiratory function
  • Ability to speak more clearly
  • Increased muscle strength
  • Bulbar impairment
  • Improved coordination in limbs
  • Enhanced neck control
  • Easier to swallow food
  • Become more independent

Conclusion

While MND remains a progressive and incurable disease, significant strides are being made in early diagnosis and potential treatment avenues. With ongoing research on stem cell therapy and exosomes, there is a glimmer of hope for improved quality of life and best treatment for motor neurone disease. Early MND disease symptoms diagnosis offers the chance to explore treatment options that can slow progression and maintain functionality for longer. The future of motor neuron disease or amyotrophic lateral sclerosis treatment holds promise, and continued research efforts may unlock groundbreaking therapies that can halt or even reverse the disease entirely.

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