ALS: Much-Needed Help for a Disease With No Cure

Paul P. Mehta, MD


February 26, 2018

Editorial Collaboration

Medscape &

Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS), commonly referred to by patients as Lou Gehrig's disease, is a progressive degenerative neuromuscular disease that is incurable and fatal. The median survival is 3 years from clinical onset of weakness. ALS, like most noncommunicable diseases, is not a nationally notifiable disease in the United States. However, the Agency for Toxic Substance and Disease Registry's (ATSDR) National ALS Registry estimates that approximately 16,000 people are living with the disease in the United States, and 5000 people are diagnosed with ALS every year.[1] Overall, ALS is more common among whites, men, and persons aged 60-69 years.[1]

Case Presentation: A Man With Unilateral Extremity Weakness

A 62-year-old white man presents to the Veterans Administration clinic with a 2-month history of weakness in his lower left extremity, with foot dragging. The patient is a military veteran with a history of a herniated disc (L3-L4) which required surgery, and arthritic pain in his left knee. His wife informed the attending physician that her husband had started tripping (with no obvious obstructions) with increasing frequency over the past 2 months. During clinical evaluation, the patient reports weakness but no pain, numbness, or tingling in his extremities. The physician refers the patient for an orthopedic consult. MRI shows no new injuries or herniation. The patient is discharged and asked to follow up in 4 weeks.

Two weeks later, the patient falls while climbing the stairs, resulting in a contusion to his right hip. He is taken to the emergency department (ED) where imaging shows no fractures. The patient's lower-extremity weakness has not subsided and instead has gradually worsened, with increased unsteadiness and tripping. A neurology consult is performed in the ED. Electromyography (EMG) and nerve conduction velocity (NCV) are ordered by the neurologist. Both EMG and NCV are abnormal. ALS is suspected, and for further evaluation the patient is referred to a neurologist who specializes in ALS.

Diagnostic Challenges

The presentation of ALS can differ from patient to patient. ALS may involve bulbar or limb symptoms, or a combination of both. The diagnosis of ALS is one of exclusion, made after all alternative diagnoses have been ruled out. Currently, there are no specific diagnostic tests for ALS. When a patient presents with nonspecific neurologic findings involving the extremities, with such symptoms as progressive weakness, abnormal fatigue, or muscle cramps, and clinical signs consistent with upper and lower motor neuron dysfunction, ALS should be considered in the differential diagnosis. Other conditions, such as myasthenia gravis, hyperthyroidism, Kennedy's disease, syringomyelia, and others, may mimic ALS.[2]

After further neurologic evaluation, this patient received devastating news: an ALS diagnosis. At this point, the neurologist was able to refer the couple to support groups, and because they live in a metropolitan area, they were able to enroll at multidisciplinary ALS clinics, which linked them to medical care, nursing, physical therapy, and dietary support. Patients in rural areas may not have access to these resources, which can present additional challenges. Fortunately, local ALS Association chapters and Muscular Dystrophy Association clinics, as well as the National ALS Registry, can provide some assistance.

This past year, a new clinical treatment for ALS—Radicava® (edaravone)—was approved by the US Food and Drug Administration, marking only the second treatment option available in more than two decades. These drugs are not curative, but they may slow the progression of the disease. For patients and clinicians, the lack of treatment options has been frustrating. Many patients mistakenly think that ALS has a cure, and it is difficult for clinicians to explain that little is known about causation. This is where clinicians can play a key role, not only in diagnosing and staying clinically up-to-date about ALS, but also by supporting and encouraging patients to connect to the National ALS Registry.

The National ALS Registry, established in 2009, collects data on ALS patients in the United States to better describe the incidence and prevalence of ALS, examine risk factors such as environmental and occupational exposures, and characterize the demographics of those living with ALS. The registry is the single most important way to contribute to ALS research to help identify the causes of ALS—and, ultimately, treatment and a cure.

Although the multidisciplinary clinic may help connect patients to the ALS Registry, not all patients choose to join the registry. For a patient with a progressive neurodegenerative disease with no cure, the registry can offer much-needed hope for patients and their caregivers by enabling them to contribute to the research about this terrible disease. Many patients have commented that enrollment in the registry makes them feel like they are part of a larger ALS cause. ATSDR has also developed a research notification tool that will allow enrolled patients with ALS to find out about new studies and clinical trials for which they may be eligible.

What Clinicians Can Do

Primary care clinicians and neurologists without ALS expertise can stay current on the latest ALS diagnostic and treatment modalities, access free resources, and learn more about the ALS Registry and Biorepository. There is also a free online CME course that covers coding procedures and updated clinical practice. (This course will be updated in 2018.)

Including ALS in the differential diagnosis for patients with degenerative neurologic symptoms may lead to earlier referral to specialty centers for further evaluation, definitive diagnosis, treatments that might extend and/or increase quality of life, and multidisciplinary care management. Finally, please encourage patients and their families to learn more by visiting the ALS Registry.

Web Resources

National Amyotrophic Lateral Sclerosis (ALS) Registry

National ALS Biorepository

Mehta P, Horton DK, Kasarskis EJ, et al. CDC Grand Rounds: National Amyotrophic Lateral Sclerosis (ALS) Registry Impact, Challenges, and Future Directions. MMWR Morb Mortal Wkly Rep. 2017;66:1379-1382. Article

Horton DK, Graham S, Punjani R, et al. A spatial analysis of amyotrophic lateral sclerosis (ALS) cases in the United States and their proximity to multidisciplinary ALS clinics, 2013. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Dec 20 [Epub ahead of print]. Article