What to Expect During ALS Diagnosis: 5 Important Details

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a disease that affects the nerve cells that control muscle movements you can control, like walking or talking. It's essential to notice common ALS symptoms early, such as muscle weakness, twitching, or tiredness, so that care can start immediately. Diagnosing ALS can be tricky because its symptoms are like other muscle or nerve problems.

To ensure patients get the proper diagnosis and treatment, doctors rely on a mix of clinical evaluations, diagnostic tests, and a review of the patient's medical history. Here's what you should know about how ALS is diagnosed and why catching it early is important.

Which symptoms may suggest you should get tested for ALS?

The first step in diagnosing ALS is noticing possible ALS warning signs. While these signs aren't unique to ALS, they can signal a neurological problem that needs more testing. Some common ALS symptoms to watch for include:

1. Muscle weakness: Difficulty gripping items such as coffee mugs or pens.
2. Twitching and ALS muscle cramps: Visible twitching or cramps, throughout the body.
3. Speech or swallowing difficulties: Trouble forming words or choking during meals or drinking liquids.
4. Fatigue: A persistent lack of energy, even after rest.

If these signs persist or worsen, consult a doctor for a more thorough assessment.

The diagnostic journey

Diagnosing ALS is a careful process that involves ruling out other conditions with similar symptoms. Since there isn't one specific test to confirm ALS, doctors use a variety of evaluations and tests to make a diagnosis. Here's a look at how the process usually works.

1. Initial clinical evaluation

When a patient visits the doctor with possible ALS symptoms, the first step is to talk about their medical history. The doctor will ask when the symptoms started, how they've changed, and if anyone in the family has had nerve or muscle problems.

Next, the doctor will perform a physical and neurological exam. They will check for weak muscles, twitching or unusual reflexes. This will help the doctor rule out other causes, like not getting enough nutrients or injuries from overusing muscles.

2. Nerve and muscle function tests

If the first check-up shows concerns, the patient is usually sent to a neurologist for more tests. One important test for ALS is called electromyography (EMG). This test checks the electrical activity in muscles and can find unusual muscle signals that point to motor neuron damage, a key sign of ALS.

Another test often used is a nerve conduction study (NCS). In this test, small electrodes are placed on the skin to measure how well electrical signals move through the nerves. These tests help doctors determine whether symptoms like twitching or muscle weakness are caused by ALS or other issues like carpal tunnel syndrome or nerve damage like in CIDP (chronic inflammatory demyelinating polyneuropathy).

3. Imaging studies

Doctors often order imaging tests such as MRI scans to gain a clearer picture of the body's systems. While an MRI cannot directly detect ALS, it can help rule out spinal cord injuries, brain tumors, or multiple sclerosis, all of which may present with similar symptoms.

4. Laboratory tests

Blood tests are also used to help diagnose ALS. These tests can show if something else, like an infection, an autoimmune disease, or exposure to toxins, is causing the symptoms.

Sometimes, doctors may recommend genetic testing, especially if someone in the family has had ALS or a similar disease. This test looks for changes in genes that are linked to ALS.

5. Observing symptom progression

ALS, or amyotrophic lateral sclerosis, is a condition that gets worse over time. One of the keyways doctors identify ALS is by watching how symptoms change. Since it’s a progressive disease, neurologists monitor symptoms for several months to see if they follow the typical pattern of ALS.

Motor neuron diseases, like ALS, can start in different areas of the body and show varying symptoms. Some forms affect how the nervous system works in specific ways, and the progression of the disease can differ for each person. By carefully tracking these changes, neurologists can better understand the condition and make a diagnosis.

The importance of early detection

Diagnosing ALS early is very important for a few reasons. While there isn't a cure, starting treatments like medications, physical therapy, and using assistive devices early can help make patients more comfortable and slow the disease's progress.

Catching ALS early also gives patients and their families more time to prepare for the future. This could mean working with doctors to create a care plan, making changes at home to make life easier, or joining support groups for advice and emotional help.

Noticing early signs, such as muscle cramps or twitching, can make a big difference in getting the right care as soon as possible.

Coping with the diagnostic process

Waiting for test results or several evaluations can be tough, but understanding the process can make it clearer. Doctors take their time diagnosing ALS to rule out other conditions and ensure it is as accurate as possible.

If you’re noticing symptoms of ALS, tracking changes in what you can do each day is essential. Pay attention to tasks that are getting harder, like zipping up a jacket, buttoning your clothes, or needing a cane to help you walk. Writing these down can give your doctor helpful details to understand your symptoms' progress. Keeping a simple record of these changes makes it easier for your healthcare team to provide the best care and support.

Getting expert help

If you or someone you know has ongoing symptoms like trouble speech changes, walking, muscle twitching, or cramps, it’s important to talk to a trusted doctor. Neurologists specializing in ALS can help guide you through the testing process with care and expertise.

Finding out about ALS early can help you manage symptoms better, get access to helpful resources, and create a care plan that fits your needs. While ALS is a challenging diagnosis, learning about it and getting the proper medical help can give you the support and tools you need to face it.

The journey to an ALS diagnosis can feel uncertain, but understanding the signs and working with skilled doctors can make it easier. By staying aware of ALS symptoms and acting early, you can take important steps toward getting the necessary care.  Learn more about ALS at Ochsner Health.