Diagnosis

ALS is a progressive, fatal disease where timeliness is essential in all aspects, making the time to diagnosis a critical part of the journey with the disease.

There is not a single diagnostic test for ALS, and the diagnosis is usually done by eliminating other possible diseases. The primary care physician or neurologist will typically review the symptoms presented while ordering these possible tests:

• Blood and urine studies
• Electrodiagnostic tests, including electomyography (EMG) and nerve conduction velocity (NCV)
• Magnetic resonance imaging (MRI)
• Muscle and nerve function tests
• Pulmonary Function Test (FVC)

For a suspected case of ALS, we encourage a prompt and urgent referral to a specialized ALS Clinic.

The Canadian ALS Research Network (CALS) is a network of clinicians across Canada who specialize in ALS research and clinical care. At a CALS Clinic, referrals for confirmation of an initial diagnosis of ALS should be seen by an ALS specialist within 4 weeks. A referral to a CALS site can expedite access to a multidisciplinary care team, early intervention, and access to clinical trial opportunities.

While researchers are still working to understand the exact causes of ALS, it is known that some cases are largely caused by a single genetic variant. Approximately 5 to 10% of people living with ALS will have a family history of the disease. A family history means multiple family members were affected by the disease due to a hereditary variant in a gene related to ALS.

In the diagnostic process, a family history of ALS will also be assessed, and genetic testing may be ordered if the physician suspects a familial form of ALS.

However, given that variants in certain ALS genes have been seen in people without an identifiable family history, a clinician at a CALS clinic will often recommend a genetic test for the specific genes C9orf72 and SOD1, and sometimes a full panel of genes, even in the absence of a family history. For individuals without an apparent family history, it is estimated that between 11 to 16% of cases are caused by known ALS variants.

Deciding whether to take the test is a challenging and personal choice. A clinician at a specialized ALS clinic can provide more information or direct individuals to a genetic counsellor to assist in their decision process.

Our ALS Canada Gene Hub can also help with this decision and understanding its implications.

ALS Canada is working to provide better information and understanding on the ALS & FTD spectrum to better support this community. In the meantime, for more information, please check the resources:

The ReferALS Early Referral Tool is part of the ReferALS program, which both physicians and patients can use to help prepare them on the steps for referral to a Canadian ALS Research Network (CALS) Clinic.

The initiative aims to reduce time to diagnosis of ALS across Canada, expediting critical access to multidisciplinary care, approved treatments, and clinical trials.

This is a PDF document that is downloadable and printable.

• Pages one and two are a tool for non-ALS general or community neurologists to use to support them in referring someone experiencing symptoms of ALS to a Canadian Research Network (CALS) Clinic.
• Page three is a tool for patients to help answer questions around why they may be being referred to a CALS clinic and provides more information on the CALS network.
• Page four was designed as a space for referring neurologists or patients to write down notes or questions they may have.

For delays and hurdles in the diagnostic process, we encourage referring your clinician to the ReferALS Early Referral Tool and the information presented on this page.

Currently, in Canada, it can take up to two years or more for someone to be diagnosed with ALS. Lengthy time to diagnosis and longer periods of uncertainty are amongst the most stressful burdens on people affected by ALS.

• Reduce patient burden and cycling through the healthcare system further avoiding the distress of a diagnostic delay or misdiagnoses.
  
• Support early access to interventions and a specialized multidisciplinary care team. Early interventions and standard of care are shown to prolong survival time and enhance quality of life for people living with ALS.
• Provide access to disease-modifying therapies and qualify patients for reimbursement. For some treatments, initiation is required between 18 and 24 months of symptom onset.
• Prevent missed opportunities for clinical trial participation. For a lot of trials investigating potential emerging treatments, patients who are not newly diagnosed, or whose symptoms have progressed too much, will not meet the eligibility criteria to participate.

This manual was developed by the Health Charities Coalition of Canada to assist patients, caregivers, friends and families in understanding and navigating the Canadian healthcare system, and the actions you can take to help you receive the best possible health care.