Some of the conditions that can cause similar symptoms to ALS include multiple sclerosis, post-polio syndrome, multifocal motor neuropathy, and spinal and bulbar muscular atrophy. (1,2) Before ordering tests, however, your neurologist will ask you about your symptoms, your health history, your family’s health history, and possibly your work history, since military service has been linked to a higher risk of ALS. (3) A neurologist will also examine you for muscle weakness, rigidity, shrinkage, or twitching; pain; loss of sensation; and changes in speaking ability, thinking patterns, and emotional expression. The following are among the diagnostic tests used to assess a person with symptoms suggesting ALS.
Electromyogram (EMG)
In the nerve conduction portion of electromyography, small electric shocks are sent through the nerves to measure how fast they conduct electricity and to determine whether there is damage to the nerves. A second portion of electromyography involves inserting a fine needle into various muscles to record the electrical activity of your muscle fibers when they are contracted and at rest. Your EMG results can help rule out ALS or point toward its diagnosis. The results of an EMG can also help your doctor determine the type of exercise therapy that may be helpful for you. (4)
Magnetic Resonance Imaging (MRI)
An MRI creates detailed images of your brain, spinal cord, and other internal structures. In people with ALS, MRI results usually don’t show abnormalities. But MRIs can identify other conditions, such as multiple sclerosis, tumors or cysts on the spinal cord, herniated disks, and other medical issues that cause neurological symptoms.
Blood and Urine Tests
Your doctor may want to take blood and urine samples to rule out other conditions that cause symptoms similar to ALS.
Spinal Tap
A spinal tap, or lumbar puncture, involves inserting a needle between vertebrae in your lower back to extract a sample of your spinal fluid, which is then examined for abnormal cells.
Muscle Biopsy
A muscle biopsy, or removal of a small portion of your muscle, may be done to look for muscle disorders other than ALS. Treatment of ALS can involve a variety of types of medical professionals, including physicians, pharmacists, nutritionists, social workers, clinical psychologists, and physical, occupational, speech, and respiratory therapists. Together, your team can find the treatments that are helpful to you. Riluzole (Rilutek) works by blocking glutamate, a chemical messenger in the brain that is often elevated in people with ALS. Riluzole doesn’t reverse any damage to motor neurons that ALS has caused before a person starts taking it, but clinical trials showed that it can extend a person’s life by a few months. The medication is available in pill form. Possible side effects include dizziness, gastrointestinal symptoms, and changes in liver function, which can cause gastrointestinal symptoms, itchy skin, and yellowing of the skin or eyes. Riluzole (Tiglutik) is a liquid version of riluzole that was FDA-approved in September 2018. The thickened liquid is administered twice daily using an oral syringe and is intended to be easier to swallow for individuals with ALS who have dysphagia, or trouble swallowing. Edaravone (Radicava) prevents cell damage by helping the body eliminate excess free radicals. The drug has been shown to reduce the decline in daily functioning caused by ALS when compared with a placebo. The medication is administered via intravenous infusion for about 10 to 14 days per month. Side effects may include bruising, gait disturbance, hives, swelling, and shortness of breath. Radicava contains the food preservative sodium bisulfite, so it can cause asthma or an allergic reaction in people who are sensitive to or allergic to sulfites. AMX0035 (Relyvrio) On September 29, 2022, the FDA approved a new drug, AMX0035 (Relyvrio), for the treatment of ALS, according to an FDA press release. The drug was developed by Amylyx Pharmaceuticals. RELATED: FDA Approves New Treatment Relyvrio for People With ALS Relyvrio is a combination of two different drugs that have shown some success protecting neurons: sodium phenylbutyrate (Buphenyl), a supplement that can be used to regulate liver enzymes, and tauroursodeoxycholic acid, or TUDCA, a medication for pediatric urea disorder. It comes as a powder that is mixed with water and drunk or administered via a feeding tube twice daily. The approval was based on findings from CENTAUR, a multicenter phase 2 clinical trial published on September 3, 2020, in the New England Journal of Medicine. In the clinical trial, people with ALS who were treated with Relyvrio experienced a slower rate of decline on a clinical assessment of daily functioning compared with those who received a placebo, according to the FDA press release. Additionally, longer overall survival was observed in a long-term analysis of patients who received Relyvrio versus those who received a placebo. Other medications are available to help with these ALS symptoms:
Muscle cramps, spasms, and stiffnessSpasticityConstipationFatigueExcessive saliva and phlegmPainDepressionSleep problemsUncontrollable laughing or crying (called pseudobulbar affect)
A variety of types of therapy and assistance can help manage symptoms and complications of ALS. (1,2)
Breathing Assistance
As your muscles weaken, your breathing will eventually be affected. You may find it hard to breathe during exercise, while lying down, and during sleep. Your doctor will most likely test your breathing occasionally to determine whether you need assistance. Your doctor may recommend noninvasive ventilation (NIV), which provides oxygen through a mask. NIV may be used for part or all of the day, depending on your needs. A tracheostomy can also assist with breathing. This involves surgery to create a hole in the front of your neck that leads to your windpipe. A tube that is connected to a respirator is then inserted into the hole. The ability to cough can also be affected in someone with ALS. To help, there are mechanical cough assist devices. A technique called breath stacking is also used. This involves taking a series of small breaths to fill your lungs, holding the breath, and then expelling the air with a cough.
Physical Therapy
The goal of physical therapy is to help you maintain physical function and continue to do as much as possible independently. A physical therapist (PT) can assist you in doing exercises and stretches that can improve your cardiovascular fitness, muscle strength, and range of motion. Such exercises may also help to alleviate pain caused by stiff muscles and joints. A PT can also help you adjust to using a brace, a walker, or a wheelchair and may suggest home alterations such as ramps to make it easier for you to get around. Some PTs can also teach you breathing and coughing techniques to maintain these functions and prevent pneumonia and other respiratory problems.
Occupational Therapy
An occupational therapist can help you navigate your home and accomplish daily activities, such as bathing, getting dressed, and eating, by showing you how to use adaptive equipment and energy-conserving techniques. An OT can also recommend ways to make your home more accessible and safer for moving around in.
Speech Therapy and Communication
As ALS advances, the muscles used to speak are affected. Speech therapy can teach you how to talk more clearly. Speech therapists can also help you learn other ways to communicate, such as through writing, using an alphabet board, or using a computer with text-to-speech features or synthesized speech.
Nutritional Support
When swallowing becomes difficult, your nutritionist will come up with a dietary plan that includes foods that are easier to swallow. Over time, a feeding tube, which goes from outside the skin of the abdomen directly into the stomach, may be necessary. A feeding tube must be surgically implanted, after which it can be used for nutritional supplements, water, and medications.
Social and Mental Health Support
A social worker can help you work out financial issues and insurance concerns and help you get the equipment you need. You may also choose to see a mental health professional such as a psychologist or licensed clinical social worker to talk about the emotional effects of the disease and learn coping strategies for living with it. You and your family members may also benefit from attending an ALS support group. Look for one in your area on the ALS Association website. For example, in research supported by the National Institute of Neurological Disorders and Stroke (NINDS), scientists are working to determine whether lowering levels of the SOD1 enzyme in the brain and spinal cord of people with SOD1 gene mutations would slow ALS progression. (1) There is a promising ongoing study looking at antisense oligonucleotide treatment (tofersen) against SOD1 ALS. (5) In 2017, researchers from the University of North Carolina School of Medicine and North Carolina State University found that a specific chemical modification called acetylation promotes TDP-43 clumping in animals. TDP-43 clumping is known to occur in ALS and is associated with neuron death. The scientists were able to reverse protein clumping in muscle cells of mice with a natural anti-clumping method. In 2021, SOLA Biosciences also reported promising findings targeting TDP-43. (6) While more research is needed, scientists are hopeful that being able to eliminate TDP-43 clumping could lead to a potential treatment for ALS. (7) In addition, there are a number of other potentially exciting investigational trials underway testing various treatments, including:
The drug reldesemtiv, a skeletal muscle activator (8)A tyrosine kinase inhibitor thought to reduce inflammation that could be contributing to ALS (9)Stem cell treatments (10)Sodium phenylbutyrate combined with TUDCA (tauroursodeoxycholic acid) (11)High-dose vitamin B12 (12)
