Amyotrophic Lateral Sclerosis / Motor Neuron Disease
Motor neuron diseases are a group of neurodegenerative disorders that selectively affect motor neurons, the cells which control all the voluntary muscles of the body. The voluntary muscles are responsible for performing movements under one’s will and thus motor neuron diseases affect one’s ability to perform voluntary movements.
Let’s first understand what motor neurons are.
Motor neurons are nerve cells that send electrical output signals to the muscles, urging the muscles to function. Motor neuron influences important muscle activity, such as:
The progress of the condition varies from one patient to another, people with MND will find some or all of these activities increasingly problematic. Eventually they may become impossible.
Motor neuron diseases can occur at any age for adults of all ages including teenagers, though it is rare. People over 40 are more vulnerable to motor neuron diseases, especially who are in their 60s. Men are more prone to motor neuron diseases than women.
With MND, messages from the motor neurons gradually stop reaching the muscles, leading them to weaken, stiffen and waste.
Motor neuron disease symptoms:
The onset of symptoms begin gradually over weeks and months, sometimes starting on one side of the body and then spreading. Generally, the first things people notice are:
- Weakness in the hands and grip, which can cause difficulty in picking up or holding objects
- Slurred speech (dysarthria)
- Weakness in the legs, and a tendency to trip
- Weakness of the shoulder, making lifting the arm difficult
- Cramps and muscles twitching
- Footdrop caused by weak ankle muscles
- Dragging of the leg
As the disease progresses, people with MND can have little or no movement and can have trouble talking, breathing and swallowing. Breathing problem may occur as diaphragm, the main breathing muscle deteriorates, eventually needing breathing assistance. However, it should be understood that the symptoms of MND are subjective, which means two people with MND may have different types of symptoms and the symptoms may vary in their severity as well. The order of the symptoms may also differ from person to person. All these complicate to arrive at a diagnosis of the condition. However, symptoms can be managed to help achieve the best possible quality of life.
Some facts on motor neuron disease:
- With MND, messages from the motor neurons gradually stop reaching the muscles.
- The wasting of the hand muscles and the inability to grip is one of the most common and prominent feature of MND, especially seen in ALS, a type of MND.
- The cause of MND is unknown though Genetic, Viral or environmental factors like exposure to certain toxins may play a role.
Types of motor neuron disease:
Motor neuron disease is an umbrella term and under which there are several types of diseases.
Amyotrophic lateral sclerosis or Lou Gehrig’s disease: The most common type affecting the muscles of the arms, legs, mouth, and respiratory system.
Progressive bulbar palsy (PBP): People with ALS often suffer from progressive bulbar palsy as well. Choking spells, difficulty speaking, eating, and swallowing are the predominant symptoms of this condition.
Progressive muscular atrophy (PMA): This type of MND can lead to muscle wasting, mainly in the arms, legs and mouth. It can be a variation of amyotrophic lateral sclerosis.
Primary lateral sclerosis (PLS): It is a rare form of motor neuron disease that progresses slower than ALS. Though not life-threatening, it can severely affect the quality of life. When children get affected by this condition, it is called juvenile primary lateral sclerosis.
Spinal muscular atrophy (SMA): It is an inherited form of MND that affects children due to an abnormality in the gene known as SMA1. Trunks, legs and arms are the areas that are primarily being affected.
Frequently Asked Questions on MND
Is motor neuron disease inherited?
In majority of the cases, there is no clear-cut family history of the disease, though a variety of genetic and environmental factors may be involved, which could be subjective. It has been found out that there is an evidence of family history of the disease in some of the people affected with the condition. So there are chances of a genetic mistake being passed down or inherited. However, it is difficult to say categorically when or if this will lead to the development of MND.
Which functions are not affected by MND?
Our senses are usually not impaired by motor neuron disease, so people can still see, hear, taste smell and feel sensations, though some people can experience changes to taste, skin hypersensitivity or problems with temperature regulation. Bladder bowels are generally not affected by MND, but because of impaired mobility, it is harder for people with MND to reach toilet. As the affected person gets dehydrated and less mobile, constipation can also be a problem. MND may not affect one’s libido, but sexual expression may be more difficult as mobility and movements are restricted.
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis is the most common type of motor neurone disease. Renowned English theoretical physicist and cosmologist, Stephen Hawking lived with ALS for many decades until his death in March 2018. Guitar maestro Jason Becker is another example of someone who has been living with amyotrophic lateral sclerosis for several years.
Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder characterized by progressive loss of anterior horn cells of the spinal cord. It affects the nerve cells and causes disability. ALS is also called Lou Gehrig’s disease, after the famous baseball player who was diagnosed with it. In ALS, nerve cells gradually break down and die. It is believed that some cases of ALS are inherited. ALS often starts with muscle twitching and weakness in a limb or speech getting slurred.
Early signs and symptoms of amyotrophic lateral sclerosis include:
- Difficulty walking or doing your normal daily activities
- Tripping and falling
- Weakness in leg, feet or ankles
- Hand weakness or clumsiness
- Slurred speech or trouble swallowing
- Muscle cramps and twitching in arms, shoulders and tongue
- Difficulty holding your head up or keeping good posture
ALS generally starts in the hands and feet and then radiates to other parts of body. As the condition progresses and nerve cells are damaged, muscles increasingly weaken. Chewing, swallowing, speaking and breathing are eventually impacted. Amyotrophic lateral sclerosis normally does not affect bowel or bladder control. Cognition and thinking ability are not affected either by ALS.
Causes of amyotrophic lateral sclerosis:
Five to ten percent of the total ALS cases are inherited. Research is still underway worldwide to unravel the causes of ALS. Some of the known causes of ALS are the following:
Gene mutation: Changes in gene mutation can cause inherited ALS. Symptoms are the same in both inherited and non-inherited ALS.
Chemical imbalance: It has been found out that people with ALS have higher than normal levels of glutamate, a chemical messenger in the brain, around the nerve cells in their spinal fluid. Excess levels of glutamate are likely to be toxic to some nerve cells.
Disorganized immune response: Sometimes a person’s immune system may start attacking some of his/her own body’s normal cells (autoimmune response), which may cause destruction of nerve cells.
Protein mishandling: Mishandled proteins within the nerve cells can cause gradual accumulation of abnormal forms of these proteins in the cells, damaging the nerve cells.
Who are at risk of developing amyotrophic lateral sclerosis:
Heredity: About 5 to 10% of people with ALS got it inherited, which means it is running in the family. Children of parents with ALS should be checked for the condition at an early age.
Age: Risk of getting ALS is directly proportional to age. In other words, as we age, the risk of getting ALS increases. Between 40 and 60 are the most vulnerable age for ALS.
Sex: Upto the age of 65, men are more prone to ALS than women, though this difference disappears after age 70.
Genetics: Many similarities in the genetic variations of people with familial ALS and some people with non-inherited ALS have been found.
Environmental factors also play a role in triggering ALS. Some that may pave way for ALS include:
Smoking: Smoking is the principal environmental risk factor for ALS.
Environmental toxin exposure: Exposure to toxin substances like lead or other substances in the workplace or at home can cause ALS.
Military service: Recent studies show that people who were in the military service have a higher risk of developing ALS, though it is unclear exactly what triggers the onset of ALS in armed forces. It is believed that exposure to certain metals or chemicals, traumatic injuries, viral infections and intense exertion makes army men prone to ALS.
Complications of amyotrophic lateral sclerosis:
Breathing disorder: Over time, the muscles that aid us to breathe start to paralyze. Similar to what someone with sleep apnea might use, people affected with ALS may need a device to help breathe. For e.g. continuous positive airway pressure (CPAP) or bi-level positive airway pressure (BiPAP) to assist with breathing.
Speaking problems: Trouble speaking is a major complication of ALS. It may start as occasional slurring of words, but worsens as the condition progresses. Over time, it may get to the point that it is difficult to comprehend.
Eating issues: Malnutrition and dehydration on account of damage to the muscles that control swallowing are major problems for people with ALS. Moreover, there are chances of food, liquids or saliva getting into lungs and thereby causing pneumonia. A feeding tube is generally used to lessen these risks and ensure adequate hydration and nutrition.
Treatment for motor neuron disease/amyotrophic lateral sclerosis
Stem Cell Therapy
Over the last few years, stem cell therapy has emerged as a promising treatment for people affected with MND/ALS. It is a potential new approach for treating MND/ALS. Clinical studies have shown that patients became much better compared to their early status after stem cell therapy using bone marrow. At Plexus, we have seen how Stem Cell Therapy along with other Rehabilitation Methods have helped improve the condition of individuals with ALS to a great extent.
Individuals with ALS/MND have severe weakness in their muscles, due to extensive wasting and reduced mobility, joint structures become weak. They have problem in walking, maintaining balance and in performing free movements of the extremities. Many patients complain of severe pain in their shoulders and legs. Physiotherapy helps to alleviate pain and improve flexibility. Keeping in mind the principles of fatigue management, our team of physiotherapists design an individual exercise protocol in order to strengthen their muscles and prevent further loss of strength. Along with Stem cell therapy, a unique combination of Regenerative Physiotherapy has shown great results in patients with ALS.
Occupational Therapists evaluate the patient’s ability to perform daily life tasks like eating, bathing, dressing, managing mobility in the community and ability to perform work –related activities. Wasting of the hand muscles is one of the most disabling features of ALS which affect an individual’s independence. Due to thumb drop and loss of grip, mundane daily tasks gradually become impossible. Functional splinting is an important area in the treatment of ALS where specific types of splints are customized to suit the patient’s needs. Treatment mainly focuses on training of ADL tasks which pose a challenge for the patient. At times the use of functional splints makes it easier to perform daily tasks. Activities to maintain strength, improve endurance, adaptive ways to manage fatigue, training of hand functions and fostering independence in daily life tasks and community mobility are the major goals of occupational therapy intervention.
Speech and swallowing difficulties are common in individuals with ALS and these problems are seen to progress over time. Together with the individual, the Speech and Language Pathologist determines the best strategies for improved speech and swallowing. Specific oro-motor exercises to improve the strength of the oral structures that aid in speech, help to improve the clarity of speech. Dysphagia Management is a very important aspect of speech therapy as it helps to improve swallowing and prevent choking in patients with ALS.
Regenerative Rehabilitation at Plexus for Motor Neuron Disease
A Case Study
Motor Neuron Disease…there is hope!
Mr. K, a 42 year old software engineer was diagnosed with this devastating neurodegenerative disorder in March, 2017. The first sign he observed was not being able to clip his finger nails using a nail clipper which was followed by slow onset of pain in the right shoulder. As days melted into months, his disability went on increasing and mundane daily activities like dressing and bathing became difficult. He was unable to lift his right shoulder, there was severe weakness and pain on movement. He also noticed that he was unable to rotate his forearm, meaning that he was not able to place his hand with the palm facing the roof. The weakness went on progressing to the other extremities as well and started affecting his walk. He went for multiple consultations and underwent various neurological examinations where he was diagnosed with Amyotrophic Lateral Sclerosis, a motor neuron disease that causes the death of neurons controlling the voluntary muscles.