A Neuromuscular Disease is a typical condition of the neurons or nerve cells of the nervous system, i.e. the central or peripheral nervous system. The central nervous system of the CNS includes the brain and spinal cord while the Peripheral Nervous System includes the neuro-muscular junctions, the muscles and peripheral nerves that extend into the limbs apart from motor nerve cells of the spinal cord. Thus, an individual suffering from a Neuromuscular Disease is most likely to develop problems in coordination of muscular movements, including all voluntary actions.

As a result, patients of Neuromuscular Diseases tend to exhibit characteristic symptoms such as decreased muscle tone, muscle wasting, reduced muscle mass and extreme physical weakness apart from repeated episodes of twitching or cramping of muscles. Other symptoms include phases of sudden numbness or tingling in the limbs. Some of the lesser-found but established symptoms that arise due to problems in the neuro-muscular junction include:

  • Disturbed Facial Expressions
  • Droopy Eyelids
  • Double Vision
  • Difficulty in swallowing
  • Labored breathing
  • Delayed pubertal development
  • Heart murmurs
  • Respiratory Problems

Understanding Neuromuscular Diseases in Greater Detail

Most of the Neuromuscular Diseases are genetic in nature. Thus, they are also called acquired neurological conditions or inherited nervous system diseases. There is no defined diagnosis of how a Neuromuscular Disease will progress and there are no defined medications or treatment for most of the Neuromuscular Diseases. It has been found that most neuromuscular diseases are progressive in nature. This means that the intensity of the symptoms is bound to increase with time. Thus, the patient is bound to suffer from increased fatigue and muscular weakness as time passes and the condition can even make walking or swallowing food almost impossible. Most of these diseases tend to surface at birth since they are congenital but many times, Neuromuscular Diseases are masked until the child reaches early childhood. In very few cases, adult onset of severe Neuromuscular Diseases has been noted.

Life expectancy rates among such patients vary a lot, depending upon the race, medical history, intensity of symptoms and the kind of support provided by the healthcare providers and the family. The latter aspect among these decisive factors is very critical, i.e. the kind of help provided to the patient in terms of managing the disease. Since there is no defined cure for Neuromuscular Diseases, management of the disease defines the survival rate and quality-of-life of the patient.

Understanding Neurological Diseases with an Example—Spinal Muscular Atrophy

Spinal Muscular Atrophy or SMA is among the most typical types of neurological diseases. Spinal muscular atrophy causes extreme wasting of the muscles that is also called atrophy. In SMA, there is progressive degeneration of nerve cells of the spinal cord. These are the motor neurons that are responsible for receiving the brain’s signals and transmitting the same to the muscles. However, among patients of SMA, the neurons tend to malfunction. Thus, the muscles aren’t able to execute the required activity. This state of inactivity of muscles initiates their gradual deterioration. Please note that like most of the neurological diseases, SMA is an inherited condition and it does not affect the sensory nerves or the intellectual capacity of the patient. Like many neurological diseases, SMA too is first noticed during the early childhood years, when the onset of symptoms is first noticed. Various types of SMA have now been established depending upon the nature and intensity of symptoms. This includes:

  • SMA Type 1—this is also called severe infantile SMA or the Werdnig-Hoffmann disease. This is regarded as one of the most severe neurological diseases that don’t allow infantile development. The lifespan of such children is very low.
  • SMA Type 2—these patients suffer from reduced symptoms during early infancy but the intensity of symptoms becomes more potent over a period, clearly visible around the age of 2-to-3 years.
  • SMA Type 3—this is the least potent form of SMA that is associated mainly with muscular weakness, particularly in the shoulders and legs. This is among the later-onset neurological diseases, often surfacing around the age of 17 to 18 years.