Amyotrophic Lateral Sclerosis (SLA), commonly known as Lou Gehrig's Disease, is a neurological disease that causes muscle weakness and negatively affects physical function. SLA is caused by the breakdown of motor neurons in the brain that are responsible for generalized and coordinated movements. There is no specific test that confirms ALS, although a combination of tests performed on common symptoms can help narrow the diagnosis of ALS. It is important to know your family history and genetic predisposition for ALS and to work with your doctor to discuss any symptoms and testing.
Step
Part 1 of 3: Beware of Symptoms
Step 1. Know your family history
If you have a family history of SLA, you should talk to your doctor about being aware of symptoms.
Having a family member with SLA is the only known risk factor for the disease
Step 2. See a genetic counselor
People with a family history of SLA may wish to consult with a genetic counselor for more information about the risk of this disease.
Ten percent of those with SLA have a genetic predisposition for the disease
Step 3. Check for typical symptoms
If you experience symptoms of SLA, contact your doctor. Often, the first symptoms of SLA include:
- Muscle weakness in the arm(-arm) or leg(-leg)
- Arm or leg twitching
- Stuttering or speech is not clear / difficult (labored speech)
- Early symptoms of SLA can include: difficulty swallowing, difficulty walking or performing daily activities, lack of conscious muscle control needed for tasks such as eating, talking, and breathing.
Part 2 of 3: Getting a Diagnostic Test
Step 1. Talk to a doctor
Talk to your doctor or clinic about an evaluation for SLA if you have symptoms and especially if you also have a family history of the disease.
- The test can take several days and requires a variety of different evaluations.
- No single test can determine if you have an SLA.
- Diagnosis involves observing some of the symptoms and testing to rule out other diseases.
Step 2. Do a blood test
Doctors will often look for the enzyme CK (Creatine Kinase), which is present in the blood after muscle damage caused by SLA. Blood tests will also be used to check for genetic predisposition, as confirmed cases of SLA may be hereditary.
Step 3. Perform a muscle biopsy
A muscle biopsy may be performed to determine the occurrence of muscle disorders in an attempt to rule out SLA.
In this test, the doctor removes a small amount of muscle tissue for testing using a needle or small incision. This test uses only local anesthesia and usually does not require a hospital stay. Muscles may feel sore for several days
Step 4. Perform an MRI
Magnetic resonance imaging (MRI) of the brain can help identify other possible neurological conditions, which present with symptoms similar to those of ALS.
This test uses magnets to create a detailed picture of your brain or spine. This test requires you to lie motionless for a period of time while the machine creates an image of your body
Step 5. Perform cerebrospinal fluid (CSF) tests
Doctors may remove small amounts of CSF from the spine in an attempt to identify other possible conditions. CSF circulates through the brain and spinal cord and is an effective medium for identifying neurological conditions.
For this test, the patient usually lies on their side. The doctor injects an anesthetic to numb the lower spinal area. Then, the needle is inserted into the spine and a sample of the spinal fluid is taken. This procedure only takes about 30 minutes. The procedure may cause some pain and discomfort
Step 6. Perform an electromyogram
An electromyogram (EMG) can be used to measure electrical signals in muscles. This allows the doctor to see whether the muscle nerves are working normally or not.
Tiny instruments are inserted into the muscles to record electrical activity. The test may cause a throbbing or throbbing sensation and may cause some pain or discomfort
Step 7. Perform a neurological condition study
Nerve condition studies (NCS) can be used to measure electrical signals in muscles and nerves.
This test uses tiny electrodes placed on the skin to measure the passage of electrical signals between them. This can cause a mild tingling feeling. If the needle is used to insert the electrode, there may be some pain from the needle
Step 8. Perform a breathing test
If your condition compromises the muscles that control your breath, a breathing test can be used to find this out.
Usually, these tests involve only different ways of measuring breath. Generally, the tests are short and involve only breathing on different test kits under certain conditions
Part 3 of 3: Seeking a Second Opinion
Step 1. Get a second opinion
After speaking with your regular doctor, continue with another doctor for a second opinion. The SLA Association recommends that SLA patients always seek the opinion of a doctor who works in this field, because there are other diseases that share the same set of symptoms as SLA.
Step 2. Tell your doctor you want a second opinion
Even if you feel reluctant to bring this up with your current doctor, your doctor will likely provide support because this is a complex and serious condition.
Ask the doctor to recommend a second doctor to check
Step 3. Choose an SLA expert
When seeking a second opinion on a diagnosis of SLA, talk to an SLA specialist who works with many SLA patients.
- Even some doctors who specialize in neurological conditions don't diagnose and treat patients with SLA on a regular basis so it's important to talk to a doctor who has specific experience.
- Between 10% and 15% of patients diagnosed with SLA actually have a different condition or disease.
- As many as 40% of people with SLA are initially diagnosed with a different disease with similar symptoms, even though they actually have SLA.
Step 4. Check your health insurance
Before you seek a second opinion, you may want to check with your health insurance company to find out how your insurance policy can cover the costs of a second opinion.
- Some health insurance policies do not cover the cost of a doctor's visit for a second opinion.
- Some policies have certain rules about selecting a doctor for a second opinion so the costs are covered by this policy plan.
