Amyotrophic lateral sclerosis (ALS)

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.