Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is a progressive nervous system disorder that affects nerve cells in the brain and spinal cord and causes loss of control of voluntary muscle movement.
ALS is characterized by progressive degeneration of motor nerve cells in the brain (upper motor neurons) and spinal cord (lower motor neurons). When motor neurons are no longer able to send impulses to the muscles, the muscles begin to exhaustion (atrophy), resulting in muscle weakness. Although the root cause of ALS is unknown, the disease is inherited from parents in 5 to 10% of cases. ALS usually begins with muscle twitching and weakness or slurred speech in a limb. As the disease progresses, the muscles needed to move, talk, eat and breathe lose control. ALS does not affect a person’s sexual function, bowel or bladder functions in most cases. Survival time varies from the onset of the disease. Although the average life expectancy of ALS is known to be 2 to 5 years, there are many ALS patients who live 10 years or longer. An average of 1 to 2 people out of 100,000 people worldwide are diagnosed with ALS each year. ALS is more common in men than women. After the age of 65, ALS disease develops at the same rate in men and women. ALS is usually seen between the ages of 40-60, and it is very rare for the disease to begin before the age of 30. On the other hand, according to recent research, the number of ALS incidences appears to be more in white populations than in African, American, Asian or Hispanic populations.
What are ALS disease classifications?
ALS cases are divided into familial and sporadic (non-hereditary). 90-95% of ALS cases are sporadic, meaning there is no family history in these cases. The cause of ALS disease in sporadic cases is unknown.
ALS disease is classified as follows:
Classic ALS
It is a progressive neurological disease characterized by the disruption of upper and lower motor nerve cells (neurons). Classic ALS covers more than two-thirds of all patients with ALS.
Primary Lateral Sclerosis
It is a progressive neurological disease in which the upper motor nerve cells (neurons) are impaired. If lower motor neurons are not affected within two years, the disease usually remains a pure upper motor neuron disease. Primary Lateral Sclerosis is the rarest of all ALS forms.
Progressive Bulbar Palsy (PBP)
It is a condition that starts with difficulty speaking, chewing and swallowing due to the deterioration of the lower motor nerve cell (neuron). This disorder covers approximately 25% of all patients with ALS.
Progressive Muscular Atrophy (PMA)
It is a progressive neurological disease in which lower motor neurons deteriorate. If the upper motor neurons are not affected within two years, the disease usually remains a pure lower motor neuron disease.
Familial ALS
It is a progressive neurological disease that affects more than one member of the same family. It covers 5% to 10% of patients with ALS.
What are the risk factors for ALS disease?
Identified risk factors for ALS include:
- Family history: In 5 to 10% of people diagnosed with ALS, the disease is inherited from the parents.
- Age: The risk of ALS disease increases with the advancement of age, and the disease is most common in people between the ages of 40-60.
- Gender: Before the age of 65, men develop ALS slightly more than women. This gender difference disappears after the age of 70.
- Genetics: Different mutations can cause different effects. Any change in normal protein can be harmful to the cell and cause disease. The most common mutations in familial ALS patients are known as C9orf72, SOD 1, TDP43, FUS, UBQLN2 gene mutations.
The following environmental factors can also trigger ALS:
- Smoking: Possible environmental risk factor for ALS. The risk is highest especially among postmenopausal women.
- Environmental toxin exposure: Although some studies may show that exposure to lead or other substances in the workplace or at home may be linked to ALS, a positive association between heavy metal exposure and ALS risk has not been consistently demonstrated in the past.
- Occupational status: Studies show that people serving in the military are at higher risk of ALS. Here, it remains unclear what triggers the development of ALS. The possibility that exposure to certain metals, chemicals, traumatic injuries, getting viral infections and exerting intense effort can trigger the development of ALS is discussed.
What are the symptoms of ALS?
People with ALS have a loss of muscle strength and coordination. As the disease progresses; routine work such as stepping up, getting up from a chair or swallowing can become unascogable. Muscle weakness can start in a part of the body such as the arm or hand, and as the disease progresses, more muscle groups develop problems. ALS disease does not affect the senses (sight, smell, taste, hearing). Although dementia and memory problems are not observed in general in ALS patients, it is known that dementia and memory problems may occur in a small number of patients.
Symptoms of ALS are not the same for every patient, they vary greatly depending on which neurons are affected. Symptoms of ALS can include:
- Muscle cramps and twitching in the arms, shoulders and tongue
- Weakness in the legs, feet and ankles
- Difficulty during normal daily activities (walking-running)
- Frequent trips and falls
- Uncontrollable crying and laughing
- Hand weakness or clumsiness
- Difficulty writing
- Difficulty speaking and swallowing by rolling or mumbling words
- Cognitive and behavioral changes
- Difficulty lifting heavy objects
- Frequently dropping the things he is carrying
- Weakness and fatigue
As the disease progresses, in addition to the above items, the following symptoms may be seen:
- Shortness of breath
- Difficulty breathing
- Difficulty swallowing
- Paralysis
As the disease progresses, ALS can cause the following complications:
Respiratory Problems
The most common cause of death in patients with ALS is respiratory failure due to involvement of respiratory muscles. ALS patients with breathing difficulties may need a device to help them breathe at night. For example; Devices that provide continuous positive airway pressure (CPAP) or bi-level positive airway pressure (BIPAP) may be recommended to help ALS patients to breathe at night.
In the advanced stages of ALS, some people may prefer a tracheostomy, which is a surgically created hole from the front of the neck leading into the windpipe to fully use a breathing apparatus that better ventilates the lungs.
Speech problems
Most patients with ALS have trouble speaking. Assistive devices are available to help people with ALS communicate more clearly.
Eating problems
People with advanced ALS disease may develop dehydration due to difficulty swallowing. There is also a higher risk of contaminating the lungs with food, fluid, or saliva, which can cause pneumonia. A feeding tube can reduce these risks and provide proper hydration and nutrition.
Dementia
People with ALS rarely have memory-dementia problems, they may be diagnosed with a type of dementia called fronto-temporal dementia.
How is ALS diagnosed?
In order to diagnose ALS correctly, the medical history of the person is evaluated and a physical / neurological examination is performed. Various laboratory and radiological tests applied to diagnose ALS disease are as follows:
- Electromyogram (EMG) [a test that measures electrical activity in your nerves and muscles]
- Blood tests
- Spinal fluid test
- Magnetic Resonance Imaging (MRI) [a test that produces images of the body without using x-rays]
What are the treatment methods for ALS?
Today, there is no definitive treatment for ALS disease, treatment methods aim to relieve symptoms, provide social and emotional support to the patient, and slow the progression of the disease.
Treatment options include:
- Medications to relieve painful muscle cramps, excessive drooling, and other symptoms.
- Physical therapy options to maintain mobility, relieve muscle stiffness, cramps, and fluid retention.
- Correct eating habits accompanied by dieticians to encourage good nutrition and complaints of difficulty in swallowing
- Speech therapy and communication training to maintain verbal communication skills as much as possible. Communication training also includes non-verbal techniques.
- Splint, corrective wires, grab bars, access devices etc. to assist with daily activities such as dressing, eating, toilet and bath. devices that will help the patient in his daily life.
- Special equipment such as wheelchairs, electric beds or mattresses, boards to maximize functional independence.
A multidisciplinary team work is required in the treatment of ALS patients, the medical personnel that can be included in this team are as follows:
Neurologist
The main physician who is a specialist and responsible for the diagnosis, evaluation and management of the condition of ALS patients.
Physical therapies
Low-effective exercise recommendations are made to maintain muscle strength and joint movement openness for as long as possible.
Stretching exercises
Stretching exercises for ALS patients can help reduce the frequency or intensity of muscle cramps. These should be done daily to prevent pain and stiffness.
Range of motion exercises (ROM)
The purpose of these exercises is to keep the joints at their normal range of motion and to prevent pain, edema and restriction.
Strengthening exercises
Strengthening exercises are not recommended for ALS patients. Because exercising with weights may not strengthen the weakened muscles, but may cause muscle weakness to increase.
With the regular physiotherapy program, the aim is to preserve the existing muscle strength and the range of motion required for movement as long as possible, in a way that preserves the cardiovascular performance.
Speech and language therapist
Most people with ALS have speech difficulties. Speech therapist deals with ALS patients who have difficulty speaking.
Nutritionist
To coordinate optimal hydration and nutrition, she often works with the ALS speech pathologist and helps patients with nutritional changes.
Respiratory therapist
He / she is a health practitioner specialized in the respiratory effects of ALS. The respiratory therapist measures the respiratory muscle strength of the patient by evaluating the breathing of the ALS patient. Respiratory therapists also provide assistance with the equipment needed to alleviate symptoms caused by the drop in respiratory power seen in ALS patients.
Nutritionist
Nutritional support is also important in ALS, as swallowing difficulties caused by the disease can make it difficult to get enough nutrients. Nutritionists can give some advice on preparing nutritious meals that are easier to swallow. Suction devices and feeding tubes can also help ALS patient.
Frequently asked questions about ALS
Does ALS affect the senses?
ALS is a motor neuron disease, meaning it only affects the voluntary muscles of the body. Sensory neurons that control one’s senses are usually not affected. For this reason, most people with ALS continue to see, hear, touch, smell, and taste.
Is ALS disease contagious?
ALS is a non-communicable disease. It is not transmitted through direct contact with blood, body fluids or air.
Can ALS patient recover completely?
There is currently no known cure for ALS disease. The patient’s quality of life and length can be increased with breathing devices and feeding tubes.
Which diseases have similar symptoms to ALS?
There are a number of diseases that can be confused with ALS, especially MS disease and Parkinson’s. Multiple Sclerosis, or MS, is one of the common diseases that can mimic ALS. Muscle stiffness, spasms and walking difficulties can be seen in the early stages of ALS and MS diseases. However, as the diseases progress, the differences between the two diseases will become easier to understand. While MS is an autoimmune disease affecting the myelin sheath of nerve cells in the brain and spinal cord, ALS is a degenerative disease that usually begins in a highly localized part of the body and affects the upper and lower motor neuron.
Parkinson’s and ALS diseases also share some similarities. Symptoms such as postural imbalance in the early stages can cause confusion between the two diseases. However, Parkinson’s affects a specific part of the brain rather than all neurons in the body.
What can ALS patients do to facilitate communication during conversation?
Speech therapists can help people with ALS retain their communication skills as much as possible, also teaching energy-conserving techniques, including non-verbal communication skills.
For ALS patients to maintain and improve communication, the following can be done:
- An environment with low noise should be chosen because “talking” in an environment where the television or radio is on can be quite tiring.
- It should be spoken slowly.
- Make sure that the face of the person being talked to is visible. A well-lit environment and meeting face to face increase comprehensibility in communication.
- Short sentences should be used during the conversation. One or two words per breath is ideal.
- Choose a comfortable posture and position that provides support during long, stressful conversations.
- It should not be forgotten that exercises to strengthen weakened muscles may have adverse effects. The speech therapist should be asked which exercises are appropriate.
- Rest periods should be planned before scheduled conversations or phone calls, as fatigue significantly affects speaking ability. In this context, techniques that work in the morning for speaking skills may not work later in the day.
- If there is hoarseness, an amplifier should be used while speaking.
- Patients using respirators can use an electrolarynx or breathing tube that provides an alternative source of air.
The following recommendations can help for those who have difficulty being understood by the person being spoken to:
- Those who can write effortlessly should always carry a spare pen and paper with them. If the thing that is tried to be said in this way is not understood by speaking, it can be conveyed by writing.
- Those who have trouble writing should use an alphabet board to mark or scan the first letter of the spoken words.
- Determining the topic before speaking can also facilitate communication.
What are the devices that can help patients with ALS to communicate more clearly?
Assistive devices available to help people with ALS communicate more clearly include:
- Palate lifting apparatus: It is a dental apparatus similar to a retainer. It lifts the soft palate and prevents air from escaping through the nose during speech.
- Amplification: A personal amplifier that can be used to increase loudness, also reduces sound fatigue.
- TTY telephone relay system: With this system, either the entire message can be written or only incomprehensible words can be written.
- Low-tech devices: Notebooks and language boards can be used as alternative communication techniques.
High-tech electronic speech amplifiers, communication devices – speech synthesizer computers and special communication devices are also available. Patients interested in purchasing an electronic communication aid should discuss this with the speech-language pathologist first.
What should listeners who want to talk to an ALS patient pay attention to?
Here are some ways listeners can help ALS patients who have difficulty speaking and communicating:
- Care should be taken to communicate face to face.
- Questions that require a “Yes” or “No” response should be asked.
- The understood part of the sentence should be repeated. (For example, ‘What do you want me to go up and get?’)
- The ALS patient should be asked to repeat what he says, be told to speak more slowly, or to spell incomprehensible words.