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Amyotrophic lateral sclerosis (ALS)

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Overview

Amyotrophic lateral sclerosis (ALS), this is often called Lou Gehrig’s disease (named from a famous baseball player in the 1920s). The motor neurons that regulate the voluntary muscles are affected by this neuromuscular disease. Loss of muscular control is a symptom of ALS.

ALS typically impacts both upper and lower motor neurons, which results in their progressive decline and prevents them from effectively communicating with muscles. Motor neurons are nerve cells that are responsible for transmitting signals from the brain and spinal cord to muscles throughout the body, enabling voluntary movement and control.

  • Upper motor neurons: the spinal cord and brain’s motor nerve cells. They are tasked with communicating with lower motor neurons.
  • Lower motor neurons: the brain stem (lower part of the brain) and spinal cord, which contain motor nerve cells. The upper motor neurons provide them instructions. The muscles in your body are then instructed to move by the messages they send.

A system is used by healthcare professionals to categorize type of motor neuron diseases:

  • Classic ALS: More than two thirds of those with ALS have this kind, which is the most common. Lower and upper motor neurons both deteriorate.
  • Progressive bulbar palsy (PBP): approximately 25% of ALS patients are affected. When the upper and lower motor neurons in the mouth and throat decline, it first manifests as difficulty speaking, chewing, and swallowing. It is known as bulbar-onset ALS, this condition occasionally progresses to affect the rest of body.
  • Progressive muscular atrophy (PMA): This only affects the lower motor neurons.
  • Primary lateral sclerosis: The most uncommon type of ALS. The condition only affects the upper motor neurons.

ALS frequently starts with speech slurring, difficulty swallowing, and muscle twitching in an arm or leg. Affected muscles eventually make it difficult to move, speak, eat, or breathe. The symptoms of ALS progressively worsen over time, making it challenging to move, speak, swallow, and eventually breathe. When their lungs are unable to supply enough oxygen to the blood, patients with ALS typically die of respiratory failure.

Currently, there is no known cure for ALS, but advances in therapy have led to improved management of the disease. With the right treatment regimen, the progression of ALS can be slowed down, and the quality of life for individuals with the disease can be enhanced. Despite ongoing research efforts, a definitive cure for ALS has not yet been discovered. Nonetheless, treatments such as medications, physical therapy, and respiratory support can help manage the symptoms and improve the patient’s overall well-being.

Symptoms

Individuals with ALS experience different symptoms. The damaged nerve cells determine which symptoms are present. Muscle weakness is typically the first symptom of ALS, and it progresses and gets worse with time. Some signs and symptoms could be:

  • Difficulty walking or performing daily tasks.
  • Weakness in the feet, ankles, or legs.
  • Cramping and twitching in the muscles, particularly in the hands and feet.
  • Weakness or clumsiness in the hands.
  • Frequent tripping and falling
  • Slurred speech
  • Trouble swallowing
  • Yawning, laughing, or crying in improper time.
  • Changes in behavior and thinking.

The following symptoms can appear as ALS worsens:

  • Difficulty in breathing
  • Difficulty in chewing and swallowing.
  • Unable to independently stand or walk
  • Loss of weight because ALS patients burn calories more quickly.
  • Patient may become depressed and anxious.

ALS frequently begins in the hands, feet, arms, or legs. After that, it spreads to other body regions. As more nerve cells die, muscles become weaker. It eventually has an effect on breathing, speaking, chewing, and swallowing.

At the onset of ALS, pain is typically not a symptom, and even in later stages, it is not commonly experienced. ALS also does not usually affect normal bladder function or the senses, such as hearing, taste, and smell. While the disease can cause a range of debilitating symptoms, pain and sensory impairment are not typically among them. However, as the disease progresses, individuals with ALS may experience respiratory difficulties and other complications that can impact their quality of life.

Causes

The exact cause of ALS is unknown. Nerve cells that regulate voluntary muscular movements like walking and talking are affected by ALS. Motor neurons refer to these nerve cells. In both kinds of motor neuron, ALS causes a slow deterioration and eventually leads to death. Motor neurons stop transmitting signals to the muscles when they are damaged. The muscles are therefore unable to function properly.

  • Genetics: Motor neuron degeneration may be caused by mutations, or alterations, in specific genes. It affects about 10% of people with ALS.
  • Environment: ALS may be brought on by exposure to specific pathogens, toxic substances, or physical trauma.

Risk factors

Established risk factors for ALS include:

  • Genetics: A risk gene was inherited from a family member in around 10% of ALS patients. Most people with hereditary ALS have a 50% probability of passing the gene on to their offspring.
  • Age: Age-related risk increases until age 75. Most people with ALS are between the ages of 60 and 80.
  • Sex: Men are slightly more likely than women to develop ALS before the age of 65. After age 70, the sex difference is no longer present.
  • Race: The majority of ALS cases occur in white and non-Hispanic individuals.

The following environmental factors have been linked to an increased risk of ALS.

  • Smoking: Smoking is confirmed to be an environmental risk factor for ALS. Smoking appears to put women at much greater danger, especially after menopause.
  • Environmental factor: ALS may be caused by lead poisoning or other chemical exposure at work or home, according to some research. There has been a lot of research, but no single substance or chemical has been reliably linked to ALS.
  • Military service: According to studies, those with military experience are more likely to develop ALS. What aspect of military service might cause ALS is unclear. It could involve exposure to specific metals or chemicals, severe wounds, viral infections, or hard work. Veterans of the military may also be more vulnerable.

Diagnosis

Early diagnosis of ALS can be challenging since it sometimes exhibits symptoms that are similar to those of other illnesses. Tests to rule out other diseases or assist in the diagnosis of ALS may include:

  • Electromyogram (EMG): A needle is placed into several muscles through the skin. The test captures the electrical activity of the muscles both during contractions and during relaxation. The presence of a muscle or nerve issue can be determined in this way.
  • Nerve conduction study: The capacity of the nerves to activate muscles in various parts of the body is measured in this study. If the patient have nerve damage, this test could detect. Nearly all EMG and nerve conduction studies are performed together.
  • MRI: A high magnetic field and radio waves are used in an MRI to provide precise images of the brain and spinal cord. An MRI can detect tumors in the spinal cord, herniated neck disks, and other diseases that may be the source of your symptoms. Sometimes even the finest quality cameras can detect ALS changes.
  • Blood and urine tests: Blood and urine samples can be analyzed in a lab to rule out other potential reasons for the symptoms. Blood samples are used to test serum neurofilament light levels, which are often high in ALS patients. Early in the course of the disease, the test may aid in a diagnosis.
  • Spinal tap or lumbar puncture: In order to do the necessary laboratory testing, a spinal fluid sample must be taken. Using a tiny needle inserted between two lower back bones, spinal fluid is extracted. Even though the spinal fluid in ALS patients seems normal, it may reveal another cause of conditions.
  • Muscle biopsy: A muscle biopsy might be performed if the healthcare provider thinks the patient might have a condition affecting the muscles rather than ALS. They receive local anesthetic before a small part of muscle is taken and submitted to a lab for examination.
  • Nerve biopsy: A nerve biopsy might be performed if the healthcare provider thinks the patient might have a nerve disease rather than ALS. A tiny bit of the patient’s nerve is taken while they are sedated and transported to a lab for analysis.

Following an initial diagnosis of ALS, medical professionals typically recommend seeking a second opinion. This is because many other illnesses share similar symptoms with ALS, and some of these can be treated effectively. It is crucial to obtain an accurate diagnosis so that patients can receive the appropriate treatment.

Treatment

Although there is no cure for ALS, treatments can slow the progression of symptoms, lessen complications and increase the comfort and independence.

Patients with ALS may require care from a multidisciplinary team of medical professionals with a range of specialties including neurologists, physical therapists, respiratory therapists, and social workers, among others. These professionals work together to improve the patient’s chances of survival and enhance their overall quality of life. Patients with ALS are often given a range of treatment options, and it is important that they are fully informed about each option to make an informed decision about their care.

  • Medications: The following medications have been approved to treat ALS.
    • Riluzole: This drug might lessen motor neuron damage. It may add a few months to survival, but it won’t be able to reverse the occurred damage. This medication can extend life expectancy by approximately 25%. Dizziness, gastrointestinal issues, and liver issues are just a few of the possible adverse effects. While taking the medication, healthcare provider will conduct blood test at a regular intervals to check the liver function.
    • Edaravone: The rate of deterioration in everyday functioning can be slowed down by this medication. It can be administered orally as a drink or intravenously in the arm. Its impact on life expectancy is still unknown. Bruising, headaches, and problems walking are examples of possible side effects. Every month, this medication is administered once a day for two weeks.
    • Sodium phenylbutyrate-taurursodiol: With the use of this medication, ALS patients’ rate of functional decline can be reduced by roughly 25%. It might also extend the lives of ALS patients. This drug is a powder that is dissolved in room temperature water. Upper respiratory infection, stomach ache, and diarrhea are examples of possible adverse effects. It tastes bad to take the medication.
  • Therapies: Therapies and other types of support can help when ALS interferes with one’s capacity to breathe, speak, and move.
  • Breathing support: Most ALS patients eventually experience significant respiratory issues as their muscles deteriorate. The medical professional may perform routine breathing tests and give mechanical ventilation equipment to help people breathe at night.

The patient may decide to use a non-invasive ventilator that has an easy-to-use mask. For some people, surgical procedure such a tracheostomy is perform by creating hole at the front of the neck leading to the windpipe. To assist patients breathe, a respirator is connected to a tube that is placed into the hole. Sometimes ALS patients with tracheostomy also undergo a procedure known as a laryngectomy. Through this procedure, food is prevented from getting into the lungs.

  • Physical therapy: The purpose of this is for ALS patient remain independent and safe. Physical therapy can address issues with walking, mobility, bracing, and equipment requirements that support independence. Low-impact exercises can assist in preserving cardiovascular health, muscle power, and range of motion for as long as feasible.

Additionally, consistent exercise can help to enhance wellbeing. The muscles can operate more effectively and pain can be avoided with the right stretching.

The therapist might recommend equipment that help them move around more easily, such as ramps. Physical therapist will also assist the patient in overcoming weaknesses by using a brace, walker, or wheelchair.

  • Occupational therapy: A patient with weak hands and arms can maintain their independence with the help of an occupational therapist. They can do tasks including dressing, grooming, eating, and bathing with the help of adaptive equipment.
  • Speech therapy: The patient can learn adaptable techniques from a speech therapist to improve their understanding of their speech. There are additional forms of communication that speech therapists can assist with. Using an alphabet board, a smart phone app, or pen and paper are a few examples.

Even if the patient is still able to communicate verbally, nonverbal communication can save them energy.

  • Nutritional support: To make sure the patient is consuming foods that are easy to swallow and meet their nutritional needs, the team frequently collaborates with the patient and their family members. When it becomes too difficult for them to swallow, they might decide to have a feeding tube insertion.
  • Psychological and social support: A social worker may be part of the team to assist with financial matters, insurance, acquiring the necessary equipment, and paying for devices. For the patient and their family, psychologists, social workers, and others may offer emotional support.

Doctors who treat this condition

Diseases & Conditions Amyotrophic lateral sclerosis (ALS)