Amyotrophic Lateral Sclerosis (ALS): Types, Causes, Symptoms, Treatment

Overview

Amyotrophic lateral sclerosis is one of the motor neuron diseases. It is a progressive, neurodegenerative disease that affects the brain and the spinal cord, resulting in the loss of muscle control. It causes difficulty in walking, swallowing, and moving. Gradually, it ends up making breathing difficult. There is no cure for the disease, and the cause is unknown. But there are a few cases that are inherited. 

The disease does not affect the patient’s mental ability or senses, such as hearing or seeing. ALS is not contagious. However, several treatment options are available that alleviate symptoms and help ALS patients prolong their lifespan. 

The disease is also known as Lou Gehrig’s disease; the famous baseball player died due to the disease.

The blog explains amyotrophic lateral sclerosis, its symptoms, causes, and treatment options. 

What is amyotrophic lateral sclerosis?

As mentioned above, ALS is a progressive neurodegenerative disease affecting the nerves that control voluntary muscles – those that are responsible for walking, chewing, swallowing and other voluntary actions . 

Muscle twitching, weakness in a limb, and slurred speech are one of the first signs of amyotrophic lateral sclerosis. ALS patients cannot move, speak, or eat as the disease progresses. Most patients die due to respiratory failure as the lungs fail to get enough oxygen to the blood. The condition is incurable, but numerous treatment options can control the symptoms for continued good quality of life. Anyone can get diagnosed with ALS. But people of any race or ethnic group between 40 and 70 are at a higher risk of developing amyotrophic lateral sclerosis.

What are the types of amyotrophic lateral sclerosis?

Based on the cause of the disease, the doctor classifies the disease into two categories. They are as follows:

• Sporadic: Nearly 90 -95% of the cases in the U.S. are sporadic, meaning they develop without a cause and no family history. It is the most common form of ALS in the U.S.
• Familial: Only a few develop this form of ALS as it is inherited from one or both parents. It affects above 5% to 10% of people. 

What are the symptoms of amyotrophic lateral sclerosis?

The symptoms of ALS vary from person to person, and the neurons are affected. The typically begins with muscle weakness that spreads to other body parts and worsens over time. During the initial stages, the symptoms may sometimes look like symptoms of other medical conditions. The following are the symptoms of ALS:

• Trouble in walking and performing daily activities
• Stumbling and falling
• Weakness in the leg, feet, and ankles
• Weakness in the hand that leads to clumsiness
• Impaired speech or difficulty in swallowing. 
• An inappropriate emotional outburst, such as crying, laughing or yawning
• Cognitive and behavioural changes
• Uncontrolled rhythmic muscle contraction, known as clonus
• Muscle spasticity
• Overactive reflexes

As ALS progresses, the symptoms worsen. The following are the symptoms:

• Frequent muscle cramps and twitching in the arms, shoulder, and tongue
• Muscle cramps and twitching, particularly in the hands and feet
• Struggle to use arms and legs
• Thick speech and challenge to project the voice
• Weakness and fatigue
• Weight loss 
• Muscle atrophy
• Constant twitching

The symptoms of severe ALS are as follows:

• Shortness of breath
• Troubled breathing, chewing, and eating
• Unable to independently stand or walk
• ALS patients burn calories at a faster rate. Therefore there is tremendous weight loss
• Depression and anxiety

As the disease further progresses, the following are the symptoms:

• Troubled breathing and swallowing
• Paralysis

What causes amyotrophic lateral sclerosis?

Healthcare providers are unaware of the causes of ALS. There are several continuous research being conducted in this regard. Most studies claim that it can be due to genetic and environmental factors.

• Genetics: Gene mutation or changes in specific genes may lead to particular motor neuron breakdown. 
• Environment: Exposure to toxic substances, viruses, or physical trauma may lead to the development of ALS

When to seek medical help?

If a person notices any symptoms of ALS, seeking immediate medical help subside symptoms. It is also crucial to inform the doctor of any new symptoms or if the patient has trouble breathing. 

Request an appointment at Apollo Hospitals 

How is amyotrophic lateral sclerosis diagnosed?

Diagnosing ALS during the initial stages is challenging as it mimics other neurological conditions. However, the healthcare provider conducts a physical exam, makes notes of the patient’s medical history, and orders the following tests mainly to rule out other conditions :

• Electromyogram: In this test, the doctor inserts a needle electrode into various muscles to evaluate multiple electrical activities of the muscle when they contract and rest. It can help guide exercise therapy. 

• Nerve conduction study: It measures the nerves’ ability to send impulses to different body parts. Thus, it determines if a person suffers from nerve damage or muscle diseases.
• MRI: With the help of radio waves and a powerful magnetic field, MRI shows detailed brain and spinal cord images. It can reveal several issues, such as spinal cord tumours, herniated discs in the neck, and other medical conditions causing the symptoms
• Blood and urine test: Checking the blood and urine helps the doctor eliminate other possible causes of signs and symptoms
• Lumbar puncture: It is also known as a spinal tap. In this, the doctor removes a small sample of the spinal fluid with the help of a needle. It helps measure the fluid to diagnose brain or spinal cord issues correctly.
• Muscle biopsy: If the doctor suspects a muscle disease instead of ALS, the patient may undergo a muscle biopsy. The patient is anaesthetized to remove a small portion of the muscle for testing.

Who is at risk of developing amyotrophic lateral sclerosis?

Each year, around 1 to 2 people per one lakh people get diagnosed with ALS. Anyone can develop ALS, but the following are the risk factors:

• Age: People above 40 are more susceptible
• Race and ethnicity: White and non-Hispanics are more likely to develop ALS.
• Gender: Men are at a greater risk of developing ALS than women, and researchers are unsure of the reason. However, as people age, the risk is the same for both genders.

What are the various treatment options for amyotrophic lateral sclerosis?

There are various treatment options. But these treatments do not reverse the damage of ALS, instead slows down the progress of the symptoms, prevent complications, and improve the quality of life of patients. The following are the treatment options:

1. Medications: The Food and Drug Administration (FAD) has approved the following three remedies to treat ALS:

• Riluzole: The oral medication can increase life expectancy by 3 to 6 months. Dizziness, gastrointestinal conditions, and liver function changes are some of the side effects of the medicine. Therefore, the doctor regularly monitors the blood count and liver functions.  
• Edaravone: It is administered intravenously into the arm or orally. However, the patient may experience reduced decline in  daily functioning. Studies are still being conducted about its effects on the life span of a patient with ALS. Bruising, headache, and shortness of breath are some of the side effects of the medication. It is prescribed daily for two weeks, every month.
• Sodium phenylbutyrate and taurursodiol: It slows the rate of decline in ALS patients. It may help patients independently perform daily activities and increase life expectancy – more studies are needed. Diarrhoea, abdominal pain, nausea, and upper respiratory infection are the side effects of this medication. 

The doctor may also provide medications that give relief from other symptoms, such as 

• Muscle cramps and spasms
• Constipation
• Fatigue
• Excessive saliva and phlegm
• Pain 
• Depression
• Sleep issues
• Uncontrolled emotions, such as laughing or crying

2. Therapies: 

• Breathing techniques: As the disease progresses, the patient may find it challenging to breathe independently. Therefore, regular tests are required. The patient may also be provided with medical devices to help them breathe at night. Mechanical ventilation and tracheostomy – a surgical hole in the front of the neck – are some of the ways that may assist a patient in breathing.
• Physical therapy: A physical therapist may help a patient practice low-impact exercises to maintain cardiovascular fitness, muscle strength, and a range of motions for a prolonged period. Regular exercises are the key to preventing pain and retaining muscle function. 

The doctor may also adjust the brace, walker, or wheelchair and suggest devices, such as ramps, for easy movement.

• Occupational therapy helps the patient be independent regardless of hand and arm weakness. Several types of equipment allow the patient to perform activities such as grooming, dressing, eating and bathing. Even here, the doctor may suggest home modifications to ensure the patient can walk easily.
• Speech therapy: The therapist teaches the patient with ALS adaptive techniques to ensure the speech is more understandable. The patient can explore other methods of communication, such as alphabet board, pen and paper, and computer-based equipment.
• Nutritional support: The doctors will work closely with the patient and their families to list foods that can be easily swallowed and meet the necessary dietary requirements. The patient may eventually need a feeding tube.
• Psychological and social support: A team of social workers and psychologists for financial issues and emotional support.

What are the complications of amyotrophic lateral sclerosis?

Patients with ALS suffer from independently performing daily functions. These everyday functions include the following:

• Respiratory system and breathing: The disease weakens the muscles that help in breathing. As the disease progresses, the patient may breathe laboriously. With a weakened respiratory system, the risk of pneumonia also increases. In severe cases, the patient may need a ventilator as well. 
• Speaking: Patients with ALS lose strength and mobility in their mouth, jaw, and throat muscles. Therefore, it becomes difficult for them to communicate and make themselves understood orally. In extreme cases, the patient may lose the ability to produce speech.
• Eating: As ALS affects the muscles in the mouth, it results in chewing and swallowing difficulties. Therefore, it can choke patients – a possible complication
• Weight loss and malnutrition: Patients with ALS find chewing difficult. Therefore, patients burn calories more quickly, lose weight rapidly, and are malnourished.
• Moving: over time, patients find it challenging to move around. This is based on each individual. One of the complications is pressure sores. 
• Cognitive ability: ALS affects the cognitive ability of nearly 50% of cases. The changes may impact language and executive function. Although rare, dementia is a possibility. Also, the physical changes to the brain may cause uncontrollable laughter and crying . It is known as emotional lability. 
• Mood: It is difficult for patients with ALS to cope with the illness, manage the symptoms, and prevent complications. Therefore, the patient may notice changes in mood due to anxiety and depression.

Conclusion

Amyotrophic lateral sclerosis is a severe and fatal disease that can also be overwhelming But with treatment and  support from doctors, family, friends, and peers, the symptoms can be managed. Although there is no cure for the condition, patient can lead a good life for a prolonged time.

Frequently Asked Questions (FAQs)

Is ALS common?

The Centers for Disease Control and Prevention (CDC) has evaluated that nearly 12,000 to 15,000 people in the U.S. are diagnosed with the disease. Yearly, approximately 5,000 people receive an ALS diagnosis.

Can ALS be prevented?

ALS is not a preventable disease.

What are the various devices that ALS patients communicate efficiently?

The following are the devices that help patients communicate properly:

• Amplification devices help increase the voice and reduce voice fatigue
• Notebooks and language boards help patients communicate without speaking a word
• Electronic speech enhancers and communication devices use a voice synthesizer to help patients communicate.
• A palate lift is similar to a dental retainer. It functions to lift the soft palate and prevent the air from escaping from the nose when speaking
• TTY telephone relay system: It is a telephone with a keyboard. The patient can type what they want to communicate, and the relay operator speaks to the listener. The patient can type the entire message or the word that needs to be shared.