Let’s start by understanding what is a neuromuscular disease.

Neuromuscular diseases affect the function of muscles due to problems with the nerves and muscles in your body. The most common signs of these diseases are muscle weakness (twitching, cramps, aches and pains), muscle loss, movement issues, balance problems, droopy eyelids, double vision, trouble swallowing, and breathing.1

According to University College London, neuromuscular diseases affect approximately 14,000,000 people globally.2 The severity level can vary a lot from one person to another, and there are many different types of neuromuscular conditions. Below, we will discuss the most familiar ones, such as ALS, MS, and Muscular Dystrophy. While not common, we included GNEM, or GNE Myopathy in the list as it is the main focus of the Neuromuscular Disease Foundation.

Amyotrophic lateral sclerosis (ALS)

Cedar Sinai defines amyotrophic lateral sclerosis (ALS) as a fatal motor neuron disease. It causes progressive degeneration of nerve cells in the spinal cord and brain and is one of the most devastating types of disorders that affect nerve and muscle function. ALS doesn’t affect the senses (such as seeing or hearing). It also usually doesn’t affect mental functioning. It isn’t contagious. Currently, there is no cure for this disease.

ALS most often affects people between ages 40 and 70. But it can occur at a younger age. It affects people of all races and ethnic groups.3

GNE Myopathy

GNE Myopathy is a rare, inherited disease that causes progressive muscle weakness. Defects of the GNE gene cause the disease. In this disorder, the fault in the GNE enzyme disrupts the functioning of the sialic acid metabolic pathway and interferes with normal muscle function. One of the first signs of the disease includes the inability to lift the front of the foot (foot drop). This may cause toes to drag while walking. As the disease progresses, it usually leads to physical disability. GNE Myopathy does not affect the muscles of the face or swallowing ability. In addition, it does not typically affect the heart or breathing muscles.

GNE Myopathy is a rare disease estimated to affect around 6 in 1,000,000 people and typically affects young adults. It is found in populations worldwide but is more common in certain populations. Like many other rare diseases, GNE Myopathy is underdiagnosed, and many people with the condition remain undiagnosed. 

Multiple Sclerosis (MS)

Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system). In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause permanent damage or deterioration of the nerves.

Signs and symptoms of MS vary widely and depend on the amount of nerve damage and which nerves are affected. Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms. 4

Muscular Dystrophy

Muscular dystrophy is a group of genetic diseases that cause progressive weakness of the body’s muscles. Some types of muscular dystrophy will present symptoms in early childhood, while others will appear in adulthood. Different muscle groups also may be affected depending on the type of muscular dystrophy.

 Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. It generally appears in 3-to 6-year-old boys and worsens rapidly.

Becker muscular dystrophy has symptoms similar to Duchenne muscular dystrophy. However, symptoms commonly begin in the teens to mid-20s and progress slowly. 5

Amongst these, the most rare is GNE Myopathy (GNEM). It is a complex disease that even the most highly trained medical practitioners sometimes struggle to diagnose. This rare genetic disease takes its toll on loved ones slowly and persistently so premature genetic screening can help with early diagnosis. Increasing public education about GNE Myopathy (GNEM) and all neuromuscular diseases is extremely important. Every moment matters. Whether it is one day less for a patient struggling with an undetermined diagnosis, one hour of relief for a patient in our Wellness Clinic, or bonding with friends during a support group – these moments are priceless.


Works Cited

1 “Neuromuscular Disease – Overview.” Mayo Clinic, https://www.mayoclinic.org/departments-centers/neuromuscular-disease-group/overview/ovc-20443670. Accessed 8 March 2022.

2 “About Neuromuscular Diseases | Queen Square Centre for Neuromuscular Diseases – UCL – University College London.” University College London, https://www.ucl.ac.uk/centre-for-neuromuscular-diseases/about-neuromuscular-diseases. Accessed 9 March 2022.

3 “Amyotrophic Lateral Sclerosis (ALS).” Cedars-Sinai, https://www.cedars-sinai.edu/Patients/Health-Conditions/Amyotrophic-Lateral-Sclerosis-Lou-Gehrigs-Disease.aspx. Accessed 9 March 2022.

4 “Multiple sclerosis – Symptoms and causes.” Mayo Clinic, 7 January 2022, https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/symptoms-causes/syc-20350269. Accessed 8 March 2022.

5 “Muscular Dystrophy.” 2022 Cedars-Sinai, https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/muscular-dystrophy.html?_ga=2.184314210.574951755.1646782795-1641856263.1646782795&ppn=Y3Mtb3JnOmNlZGFycy1zaW5haTpoZWFsdGgtbGlicmFyeTphcnRpY2xlcw==.