Upper Motor Neuron Disease

Probably you still remember the ice bucket challenge that went viral on social media around the world in July 2014. Many celebrities, as well as regular people, were drenched in icy water to show their support. This craze was initiated by Pete Frates, a Boston College baseball player, who suffers from the condition of amyotrophic lateral sclerosis (ALS)-one of the upper motor neuron disease. The idea behind the Ice Bucket Challenge is to raise awareness of ALS and to promote research donations on motor neuro disease.

What Is Motor Neuron Disease?

The group of neurological conditions termed motor neuron diseases (MND) can affect both adults and children. In these diseases, there is damage to motor neurons, specialized cells that mediate voluntary muscle activities, including breathing, walking, and writing. There are four types of MND. The first three conditions have very similar symptoms but progress at different rates:

  • ALS accounts for around 60-70% of MND cases, and is the most common type.
  • Progressive bulbar palsy (PBP) makes up around 20% MND cases.
  • 10% MND cases are due to progressive muscle atrophy (PMA).
  • The fourth type, primary lateral sclerosis (PLS), is very rare, and unlike other types of MND, is not fatal. However, in very unusual cases, PLS progresses to ALS.

Upper Motor Neuron Disease vs. Lower Motor Neuron Disease

We initiate movement through ideas formulated in the brain. This “motor plan” will be communicated to the motor neurons in the motor cortex within the brain – these neurons are known as cortical or upper motor neurons (UMNs).

Lower motor neurons (LMNs) are very large nervous cells where the cell body is situated in the spinal cord, but the axon leaves the spinal cord to connect with muscles to affect movement.

In upper motor neuron (UMN) disease, patients often experience resistance to movement and stiffness (muscle spasticity), over-reactive reflexes, and the Babinski sign, a specific reflex indicating damage to the neural pathways between the brain and spinal cord. If it is the LMNs that have been damaged, patients typically experience muscle wastage (atrophy), weakness, and twitching (fasciculations). These symptoms can happen to any muscle group, including the legs, arms, and torso.

On very rare occasions, a patient may have UMN disease without any LMN dysfunction.

Risk Factors and Symptoms of Motor Neuron Disease

Risk Factors

MND is fairly rare, with only new two cases for 100,000 people every year. The prevalence is around 5-7 people per 100,000. Most general practitioners will see one or two patients with MND over their career. Major risk factors include age, male gender, and genetic susceptibility.

  • Approximately 5-10% MND cases are due to genetics.
  • MND is most frequently seen in the over-50s, although it can develop at any age. In familial cases, the main age of onset is 43-52 years, whereas with sporadic cases, it’s around 58-63 years.
  • Men are twice as likely to suffer as women.


Initial stage:

  • Clumsiness
  • Tiredness
  • Muscular pain
  • Cramps
  • A weakening of grip, so that picking up or holding objects may become hard
  • Twitching
  • Slurred or difficult to understand speech
  • Limb weakness

Advanced stage:

  • Weakness in the muscles, in particular the limbs, where movement becomes more and more difficult
  • The limb muscles begin to shrink and some develop spasticity, where they become stiff
  • Pain in the muscles and joints
  • Any twinges or spasms in the muscles worsen
  • The patient has problems swallowing (dysphagia), which are getting worse. This makes it more and more difficult to eat and drink.
  • As the patient has issues controlling saliva production, they may begin to droll
  • Excessive yawning – this can lead to jaw pain
  • There are issues speaking and communicating as the mouth and throat muscles get weaker
  • The patient experiences changes to their emotional state and personality. They may have periods of uncontrollable laughing or crying.
  • Patients may experience cognitive changes, for example trouble learning new things, or forgetting facts. They may also have problems with concentration and language. A small number of MND patients also develop dementia. These issues are difficult to distinguish from normal aging in elderly patients.
  • Continuous weakening of the lung muscles leads to problems breathing and frequent shortness of breath, even during rest. Breathlessness whilst lying down can affect sleep, and patients may eventually need mechanical aids and extra oxygen to help with breathing.

End stage:

  • Breathing problems get worse and the oxygen mask will not be sufficient.
  • Eventually the patient will become completely paralyzed.
  • The patient becomes more and more tired, eventually falling into deep sleep and peacefully passing away.

Treatment Options to Slow Down the Progression

1.  Treatment to Slow Down Upper Neuron Motor Disease Progression

Riluzole is currently the only medication specifically developed to treat MND. Scientists believe it works through reducing the amount of glutamate within the body, which reduces the progression of the condition.

  • For muscle cramps and stiffness: MND patients suffering from muscles cramps and stiffness can be treated with physical therapy or medication. Drugs used include phenytoin, carbamazepine, muscle relaxants, botulinum toxin (BTA), and intrathecal baclofen therapy, administered via a surgically implanted pump.
  • For drooling: Drooling symptoms in MND patients may be controlled using a motion sickness drug called hyoscine hydrobromide, or glycopyrrolate injections. If these do not improve the patient’s symptoms, atropine, which inhibits saliva production, can be used either orally or intravenously.
  • For emotional lability: Selective serotonin reuptake inhibitors (SSRIs) are antidepressants that may support ALS patients with bouts of uncontrollable crying or laughter (emotional lability), and help to stabilize their emotions.
  • For speech problems: A certified speech and language therapist can help MND patients with speaking and communication difficulties. As conversing becomes more difficult as the disease progresses, the patient may require communication aids.
  • For dysphagia (difficulties swallowing): Many MND patients have problems eating and drinking, particularly in the later stages of the disease. To avoid any abdominal surgery, an operation known as percutaneous endoscopic gastrostomy can be performed which allows food into the stomach through a feeding tube.

2.  Stem Cell Transplant for ALS Treatment

Scientists from Harvard believe that new treatments for ALS can be developed using novel mechanisms in neural stem cells. Promising evidence has emerged from 11 separate animal experiments.

3.  End of Life Care

Unfortunately, upper motor neuron disease is a fatal and incurable disease, so patients and their carers may want to discuss the end stage of the disease with their healthcare team when they are ready. Issues commonly raised include:

  • The need for hospice care in the later stages of the condition, to provide respite
  • Drawing up advance directives – healthcare professionals can advise patients and their families on the options available and how best to carry out the patient’s wishes

Famous People with ALS

Lou Gehrig

Lou Gehrig (1903-1941) was an American baseball player, who set many Major League records in the 1920s and 1930s, including the most career grand slam home runs - 23. Although he was famous for his durability, he noticed his performance start to dip in 1938, and after extensive medical testing he was diagnosed with ALS on his 36th birthday. In ALS, the nervous system gradually shuts down and the patient becomes paralyzed, and within three years, Gehrig passed away.

Professor Stephen Hawking

Stephen Hawking was born in 1942 in England. He is perhaps one of the most famous physicists of our age, demonstrating that Einstein's General Theory of Relativity implies that space and time began with the Big Bang and will finish with black holes. Hawking is philosophical about having ALS, saying that he tries to have a normal life, and that his condition doesn’t prevent him from achieving great things.


Mao Zedong

Mao Zedong was the political and military leader of the Communist Party of China (CPC) who defeated the Kuomintang (KMT) in the Chinese Civil War to become the controversial leader of the People's Republic of China (PRC) in 1949. This sufferer of upper motor neuron disease is one of the most important historical figures of the 20th century. In his later years, Mao suffered from ALS, and his health had noticeably declined in the months leading up to his death in 1976.


David Niven

David Niven (1910-1983) was an English Oscar-winning actor, famous for such films as Around the World in Eighty Days (1956), Separate Tables (1958), and The Pink Panther (1963). He is also known for hosting the Academy Awards with Bob Hope and Jack Lemmon, serving in World War II, and having a relationship with Samuel Goldwyn. Niven died aged 73 of motor neuron disease in Switzerland.

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