als is a devastating neurodegenerative disease with no cure, but there are reasons for hope

facing a health issue of any kind can be challenging, but for those diagnosed with als, a progressive and fatal neurological disease, each day represents precious time they have with family and friends. als is a neurodegenerative disease that primarily affects the nerve cells (neurons) responsible for controlling voluntary muscle movement. “every diagnosis of als is devastating ,” says dr. lorne zinman, director of the als and neuromuscular clinic at sunnybrook health sciences centre, a research and teaching hospital affiliated with the university of toronto. “the way i explain the disease to my patients is, you know how some older men start to lose their hair? in als, people start to lose their motor neurons and it typically spreads throughout the entire body . while some patients have a family history of als and we can identify the causative gene, in most cases there is no family history and we don’t understand why it occurs. ”   

early signs and symptoms of the disease may include muscle cramps or twitches, muscle weakness or stiffness (often in the arms or legs), slurred or nasal speech, and difficulty chewing or swallowing . als’ effects are horrendous to experience and heart-wrenching to watch. “the disease progresses from one region to the next, resulting in patients’ inability to speak , swallow , move their arms and legs , and, eventually, breathe,” says dr. zinman. “most patients die within three to five years from the first symptom. it’s one of the worst diseases on the planet. and unfortunately, while we have some treatment options that can slow down the progression of the disease, we still don’t have a cure.”  

slowing down the progression of als is the best way to improve patients’ quality of life and give them more time. this is difficult because of the challenges associated with diagnosing als. “most patients don’t get diagnosed with als until one to two years after their first symptom onset,” says dr. zinman. “limb-onset als can start with something as simple as weakness in your hands, maybe trouble opening water bottles or the fridge. or it may begin with weakness in the legs, so patients notice a foot drop or trouble climbing the stairs. when als starts in the bulbar region, it typically presents with slurring of speech followed by swallowing difficulties . als is an insidious disease and because there are no sudden changes, patients will often minimize early symptoms because they aren’t severe enough for them to seek medical attention.”  

when patients do present to their family doctors with early symptoms, they are frequently attributable to more common ailments, such as radiculopathies from degenerative changes in the spine, a pinched nerve like carpal tunnel syndrome, or a stroke. a relatively rare disease, als is not the first thing that comes to family doctors’ minds. as there are no reliable diagnostic biomarkers, als can’t be diagnosed with a blood test or imaging.   

most als patients have multiple investigations and see multiple specialists before visiting a neurologist and receiving a diagnosis, notes dr. zinman. at this time, for patients with sporadic als without a family history of als or known mutation, it is extremely challenging to make a definitive diagnosis until the motor neuron loss has spread to other regions of the body.  

increasing als awareness will help patients and primary care physicians to earlier recognize symptoms to arrange appropriate investigations and referral to a neurologist. family doctors can also be made aware of als red flags to look out for such as: isolated limb weakness with no sensory symptoms or pain, slowly progressive speech followed by swallowing difficulties, or progressive and unexplained shortness of breath.  

“we need to do a better job in diagnosing patients earlier in this progressive neurodegenerative disease. like cancer, the best way to help patients with als is to diagnose them earlier in the disease course, so we can have more options available to manage the disease with our multi-disciplinary als teams,” says dr. zinman.   

although we cannot yet stop disease progression, earlier diagnosis ensures patient can qualify for and get access to approved medications to slow disease progression. shortening the time from symptom onset to diagnosis also serves to reduce patients’ stress and uncertainty regarding their symptoms and reduces the risk of misdiagnosis and unnecessary interventions and procedures. it will also increase patient access to clinical trials testing the most promising therapeutics.   

“there are numerous novel therapeutics being tested in als clinics world-wide and we are hopeful there will be more effective interventions soon,” says dr. zinman. “and the earlier patients get to see an als specialist, the more likely they may be to qualify for clinical trials.”  

early diagnosis also allows als patients to get connected more quickly to als multi-disciplinary teams, which in addition to als neurologists typically include an als nurse, occupational therapist, speech language pathologist, dietitian, respiratory technologist, respirologist, palliative care expert, physiatrist, physiotherapist, and social worker. “als can affect your entire body, resulting in complete paralysis, so it takes a village to effectively care for patients,” notes dr. zinman.   

increasing als awareness will assist future patients, caregivers, and health care practitioners in shortening the time from symptom onset to diagnosis. als is a rare disease, but each year approximately 1,000 canadians die from als and a similar number are diagnosed with the disease. “interestingly, you have a similar lifetime risk of getting als (1 in 350 men and 1 in 420 women) as you do of getting multiple sclerosis (ms),” says dr. zinman. “because survival is longer and the disease is more prevalent, most people have heard of ms, but not als, so increasing awareness is a critical part of reducing the time to diagnosis for patients.”    

“in managing als patients for almost two decades, i’ve witnessed first-hand how incredibly brave they are,” adds dr. zinman. “the courage i’ve seen in this patient population is just beyond anything i would’ve anticipated. i’ve also observed the best in the human spirit in witnessing the dedication of incredibly committed family members and friends acting as caregivers.   

“als multi-disciplinary teams will continue to support patients and families throughout the course of the disease and continue research studies to find better treatments. there has been a clear acceleration in the pace of discovery with dozens of promising therapeutics under investigation and i am more optimistic than ever that we will one day be able to stop this dreadful disease.”  

this story was created by content works , healthing.ca’s commercial content division, on behalf of a canadian healthcare company.  

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als is a devastating neurodegenerative disease with no cure, but there are reasons for hope

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