ASPIRE educational series: What is a NeuroMuscular Disease (NMD)- Part 1

A neuromuscular disease (NMD) is a disorder that affects the peripheral nervous system.

The principle effect of neuromuscular disorders is therefore on the ability to perform voluntary movements. Neuromuscular disorders can be categorized as:

Patients with neuromuscular diseases can have weakness, loss of muscle bulk, muscle twitching, cramping, numbness, tingling, and a host of other symptoms. Problems with the nerve-muscle junction can also cause droopy eyelids, double vision, and weakness that worsen with activity. Some NMDs can also cause difficulty with swallowing and sometimes with breathing. NMDs cause significant incapacity, including, at the most extreme, almost complete paralysis.

Incidence rates for most NMDs range from 0.05 to 9 per 100,000/yr. Most NMDs show prevalence rates between 1 and 10 per 100,000 population.

Neuromuscular disorders progress over time. Most NMDs onset is at birth, some manifest in childhood and others have adult onset. The disease may be genetically passed down, caused by autoimmune disorders or due to a spontaneous genetic mutation, inflammation, exposure to environmental chemicals and poisoning or tumors. Some NMDs simply have no known cause.

Diagnosing a neuromuscular disorder is a multistep process starting with direct clinical observation which can identify atrophy or loss of muscle bulk and/or tone may lead a physician to order other diagnostic tests, including:

There is no cure for most NMDs, but they can be effectively managed and treated. Interventions include:

There are currently a number of pharmaceutical companies working on identifying treatments for some of these NMDs. This has raised hopes amongst patients and their families and the patients advocacy groups are playing a significant role in supporting disease awareness initiatives and funding for research.




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