Amyotrophic Lateral Sclerosis (ALS), commonly referred to as Lou Gehrig's disease, is a neurological disease that causes muscle weakness and adversely affects physical function. It is caused by the malfunction of neurons in the brain responsible for movement and motor coordination. There are no specific tests that can confirm ALS, although a combination of tests for the most common symptoms can help make a diagnosis. It is important to be aware of the family history and genetic predisposition for ALS and to work with a doctor to discuss any symptoms and tests.
Steps
Part 1 of 3: Pay Attention to Symptoms
Step 1. Get to know the family history
If there is a family predisposition to ALS, you should speak to a doctor to evaluate the symptoms.
Having a family member with ALS is the only known risk factor for the disease
Step 2. Talk to a geneticist
People with a family history of ALS should speak to a geneticist to find out more about the risk of the disease.
Ten percent of people with ALS have a genetic predisposition to the disease
Step 3. Check for typical symptoms
If you have symptoms of ALS, contact your doctor. Early symptoms often include:
- Muscle weakness in one leg or arm or in more than one limb
- Spasms in the arm or leg
- Sputtering or having difficulty with words
- Later symptoms of ALS can include: difficulty swallowing, walking or doing daily activities, lack of muscle control for activities such as eating, talking and breathing.
Part 2 of 3: Doing Diagnostic Tests
Step 1. Talk to a doctor
See a doctor or clinic for an evaluation of ALS if there are symptoms and especially if there is a family predisposition to the disease.
- Analyzes can take several days and require several evaluations.
- No test alone can determine if you have ALS.
- Diagnosis includes observing some symptoms and conducting some tests to rule out other diseases.
Step 2. Take blood tests
Doctors will often check for the CK (Creatine Kinase) enzyme, which has elevated levels in the blood after muscle damage from ALS has occurred. Blood tests can also be used to check for genetic predisposition, because some cases of ALS may be familiar.
Step 3. Take a muscle biopsy
Muscle biopsy can be done to determine if other muscle disorders are present in an attempt to rule out ALS.
In this test, the doctor removes a small piece of muscle tissue for examination, using a needle or a small incision. The test uses only local anesthesia and does not usually require hospitalization. The muscle may be sore for a couple of days
Step 4. Do an MRI
An MRI of the brain can help identify other possible neurological conditions that have symptoms similar to those of ALS.
The test uses magnets to create a detailed picture of the brain or spine. The test requires the patient to remain motionless for a certain period of time while the equipment creates an image of the body
Step 5. Do cerebrospinal fluid (CSF) tests
Doctors may draw a small amount of CSF from the spine to try to identify other possible medical conditions. Cerebrospinal fluid circulates through the brain and spinal cord and is an effective means of identifying neurological disorders.
For this test the patient usually lies on his side. The doctor injects an anesthetic to numb the lower spine. A needle is inserted into the lower spine, then a sample of spinal fluid is collected. The procedure takes about 30 minutes. It can result in minor aches and discomfort
Step 6. Do an electromyography
Electromyography (EMG) can be used to measure electrical signals in muscles. This allows doctors to determine if the muscle's nerves are functioning normally.
A small tool is inserted into a muscle to record electrical activity. The examination can cause a sensation such as a twinge or spasm and may produce minor pain or discomfort
Step 7. Do a nerve condition study
Nerve Condition Studies (NCS) can be used to measure electrical signals in muscles and nerves.
This test uses small electrodes placed on the skin to measure the passage of electrical signals. You may feel like a slight tingling. If you use needles to insert the electrodes, it can be a little painful because of the needle
Step 8. Do breathing tests
If the condition is damaging the muscles that control breathing, it is necessary to proceed with function tests to find out.
These tests usually involve various ways of measuring breathing. They are usually short and only require breathing in different test devices under particular conditions
Part 3 of 3: Request a Second Medical Consultation
Step 1. Seek a second consultation
After talking to your doctor, ask another doctor for a second opinion. The ALS Association recommends that patients always seek the advice of another physician experienced in the field, because there are other diseases that have the same set of symptoms as ALS.
Step 2. Ask the doctor that you want a second opinion
Even if you feel reluctant to ask your doctor about this, he or she will likely sympathize with it because it is a serious and complex condition.
Ask your doctor to recommend a second person to have you examined
Step 3. Choose an SLA expert
When you ask for a second opinion on an ALS diagnosis, talk to an expert who works with many patients with ALS.
- Even some doctors who specialize in neurological diseases often fail to diagnose and treat ALS patients, so talking to someone with a specific experience is important.
- 10% to 15% of patients diagnosed with ALS actually have a different condition or disease.
- Over 40% of people with ALS are diagnosed at first for a disease with similar symptoms, even if they actually have ALS.
Step 4. Check your health coverage
Since ALS requires very expensive treatment and a lot of assistance, be sure of your health coverage and what costs you will have to bear because they are not guaranteed by the public health service or private insurance.
- For example, some insurance policies do not cover the cost of visits for a second medical opinion.
- In other cases, however, there are particular rules for the choice of doctors who can give a second opinion with the cost covered by the insurance or health service.
