Amyotrophic lateral sclerosis (ALS), also called Lou Gehrig's disease, is a degenerative disease of the motor neurons in the brain and spinal cord. Starting as a muscle weakness, tremors, or cramping, ALS eventually progress into an almost complete paralysis of the muscles.
This severely limits voluntary movements, from walking to eating to even breathing. Unfortunately, treatment options are limited, and there is no cure for ALS. However, some medications can help significantly slow the progression of symptoms. Yet, all of this is dependent upon early intervention and a sound diagnosis. Here’s a look at what’s involved in diagnosing ALS.
The early symptoms of ALS can present similarly to several other neurological disorders. Because of this, it requires a multifaceted approach to correctly diagnose Lou Gehrig’s disease. In large part, these diagnostic procedures involve an array of physical examinations and specialized tests to rule out the potential for other diseases.
Potential Tests
The patient’s history can be extremely important to an accurate diagnosis. In 5-10% of patients, familial type ALS is diagnosed, which means there is a genetic link present in the patient’s family history. Children of someone with ALS have about a 50% chance of developing the disease as well. The other 90% of patients have what’s called "sporadic type ALS." In addition to a physical and neurological exam, the ALS Association states that your doctor should run most, if not all, of the following tests:
- Blood and Urine Tests
- Electromyography (EMG—to assess electrical activity of resting and contracting muscles
- Nerve Conduction Velocity (NCV)—to check for nerve damage by seeing how well nerve impulses reach other parts of the body
- Muscle or Nerve Biopsy—to study for anomalies
- Spinal Tap
- Magnetic Resonance Imaging (MRI)—to allow your doctor to spots issues such as a tumor or herniated disc that can cause similar symptoms
- Myelogram of the Cervical Spine—to check for issues with the nerve roots, spine, and surrounding tissue
Second Opinions
Since the brain is such a mysterious organ and there is still much the medical field doesn’t understand about ALS, the ALS Association also discusses the importance of a second opinion. This is especially true if your original diagnosis is not given by someone who specializes in ALS. Lou Gehrig’s disease is an extremely variable disease. It has averages and common occurrences, but there are also many exceptions to those rules.
For example, most patients develop the disease between 40 and 60 years of age, but juvenile onset also occurs. Additionally, most symptomatic onset begins in the muscles of the limbs (limb-onset ALS), but it can also start with slurred speech (bulbar-onset ALS). No matter what the diagnosis, if something doesn’t agree with you, it is one of your rights as a patient to seek a second opinion.
