Neuromuscular diseases are diseases that impair motor function or movement, either because of dysfunction of the muscle itself or indirectly through dysfunction of the nerve that communicates with that muscle. There can also be dysfunction at the point of communication between nerves and muscles, the neuromuscular junction. Nerves control the body’s muscles, producing voluntary as well as involuntary movement. When the neurons’ ability to tell the muscles to “move” is affected, then movement is decreased either in part or full. Problems can occur anywhere along that pathway (muscle, nerve junction, or the nerve itself including the myelin sheath, the nerve’s coating).
Brown Vialetto Van-Laere (BVVL) is a specific type of neuromuscular disease affecting the motor neuron. Motor neuron diseases are a type of neuromuscular disease that is progressive in nature, destroying the cells (motor neurons) that control essential muscle activity including speaking, walking, breathing, and swallowing. These diseases affect both children and adults, who suffer through these diseases with normal cognition or thinking, as they become trapped in a body that is wasting away.
Examples of other better known neuromuscular diseases include neuropathies, multiple sclerosis, muscular dystrophies, spinal muscular atrophy (SMA), cerebral palsy, myasthenia gravis, and Lou Gehrig’s disease (ALS).
Neuromuscular diseases affect human beings at every stage of life, from infancy through old age, and they do not discriminate according to ethnicity or geography. They affect millions worldwide. The incidence in general has been noted to be about 1 in every 1,000 births.
According to the ALS Association, there are currently more than 30,000 Americans affected with amyotrophic lateral sclerosis (ALS) today, most of them adults. Every year, 5,600 more are diagnosed with the disease. In the world of pediatrics, there are more than 25,000 Americans with spinal muscular atrophy (SMA), which is the most common pediatric motor neuron disease; and although there are different types of SMA, together they make up the leading genetic cause of death of infants and toddlers (www.smafoundation.org).
Many neuromuscular diseases are genetic. Most of them have no cure. At this point in time some have, at best, treatment or therapy to try to increase movement, improve symptoms and lengthen life expectancy.
There is no cure or standard treatment for motor neuron diseases. Most forms are fatal, and all forms are severely disabling due to paralysis of muscles.
Sadly, many Americans have never heard of these diseases. We need to get to a place where everyone knows the names: “motor neuron disease” and “neuromuscular disease.” Many of these diseases are genetic, and most have no cure. First, researchers need funding to identify the genetic and environmental factors responsible for these diseases. Next, investigation into potential therapeutics begins. For instance, if we can solve the mystery of how and why motor neurons die in motor neuron diseases, we can better understand how to reverse this process; regenerate the neurons themselves; and even create new neurons from other types of cells to forge new pathways to the atrophied muscles. The possibilities for treatments and a cure are endless and very much within our grasp.
You can aid the mission of the Thisbe and Noah Scott Foundation through tax deductible donations as well as by lending a hand to A Mighty Voice: Fundraiser for Children’s Neuromuscular Diseases.
You can contact Lindsay Ballew, Executive Director, at firstname.lastname@example.org with any questions.
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