Amyotrophic Lateral Sclerosis
ALS is short for amyotrophic lateral sclerosis. You might also have heard it called Lou Gehrig's disease, after the baseball player who was diagnosed with it in the 1930s. A French doctor named Jean-Martin Charcot discovered the condition in 1869.
Causes of Amyotrophic Lateral Sclerosis
Researchers still don’t know exactly what causes motor neurons to die with ALS.
Gene changes, or mutations, are behind 5% to 10% of ALS cases.
More than 12 different gene changes have been linked to ALS.
One change is to a gene that makes a protein called SOD1.
This protein may be toxic to motor neurons. Other gene changes in ALS might also damage motor neurons.
Environment could also play a role in ALS.
Scientists are studying whether people who come into contact with certain chemicals or germs are more likely to get the disease.
Glutamate - This chemical sends signals to and from the brain and nerves. It’s a type of neurotransmitter. With ALS, glutamate builds up in the spaces around nerve cells and may damage them.
Mitochondria problems - Mitochondria are the parts of your cells where energy is made. A problem with them might lead to ALS or make an existing case worse.
Types of Amyotrophic Lateral Sclerosis
Sporadic ALS is the most common form
It affects up to 95% of people with the disease. Sporadic means it happens sometimes without a clear cause.
Familial ALS (FALS) runs in families
About 5% to 10% of people with ALS have this type. FALS is caused by changes to a gene. Parents pass the faulty gene to their children. If one parent has the gene for ALS, each of their children will have a 50% chance of getting the gene and having the disease.
Symptoms of Amyotrophic Lateral Sclerosis
Some common early symptoms include:
A hard time holding items with your hands
A hard time holding your head up
Less muscle mass
More serious chewing and swallowing problems
Difficulty being understood when speaking
Diagnosis of Amyotrophic Lateral Sclerosis
Blood and Urine Tests
These won’t detect ALS, but common lab tests can be used to rule out other diseases that have the same kinds of symptoms. Your blood samples and urine may be used to test for:
Lack of vitamin B12
Hepatitis (inflammation of the liver)
Autoimmune diseases (in which your body’s immune system attacks its own healthy cells)
In some cases, a doctor may also use a what’s called a lumbar puncture, or spinal tap, to take fluid from your spine to look for problems.
In rare cases where ALS runs in a family, genetic tests may be run to figure out whether a gene mutation is linked to your disease.
Scans such as magnetic resonance imaging, or MRI, can’t directly diagnose ALS.
That’s because people with the condition have normal MRI scans.
But they are often used to rule out other diseases.
For instance, a spinal cord tumor or herniated disk in the neck can cause some symptoms that mimic ALS but will show up on a scan of the spine and neck, ruling out ALS as the cause of the symptoms.
Muscle and Nerve Tests
If basic lab tests don’t point toward a different health issue, your neurologist can use more advanced tests.
electrophysiological tests,and doctors can use them to confirm that the way your muscles and nerves are acting fits the definition of ALS.
These tests can show abnormal results if you have ALS, but your doctor could also decide from the results that you have damage to your nerves or a muscle disease that’s not ALS.
These tests include:
EMG is one of the most important tests used to diagnose ALS.
Small electric shocks are sent through your nerves.
Your doctor measures how fast they conduct electricity and whether they’re damaged.
A second part of the test also checks the electrical activity of your muscles.
In both cases, your doctor will be able to see clear abnormal patterns of activity if you have ALS.
A nerve conduction study
This measures the ability of your nerves to send signals. Only about 10% of ALS patients have abnormal nerve conduction study results, but the test can also suggest other diagnoses.
A muscle biopsy
A small sample of your muscle tissue may be taken if your doctor thinks you have a muscle disease other than ALS. You will be given something to numb the area before the tissue is taken.
Treatment of Amyotrophic Lateral Sclerosis
Edaravone (Radicava): administered through IV, it is an antioxidant that can prevent damage to nerve cells from toxic substances called free radicals. But it is unclear how it works to slow the physical progression of patients with AlS,. The most common side effects include bruising, unsteady gait, and headache.
Riluzole (Rilutek): taken orally, it helps reduce damage to your motor nerves by reducing the amount of glutamate in your system. (Glutamate carries chemical messages to your nerves. Too much of it can damage the cells). The most common side effects include gastric distress, dizziness and bruising.
Physical therapy and exercise: These keep your muscles strong and working as long as possible.
Hot tub and whirlpool baths: These can ease your muscle spasms or cramps.
Dietary counseling: This becomes really important when swallowing becomes a problem.
Speech therapy: Specialists can help you learn ways to make your speech more clear when you talk or other methods of communicating, such as writing with pen and paper or an alphabet board.
Occupational therapy: This can help you find ways to dress, bathe, and groom. A therapist can help you set up your home so it’s easier for you or a loved one to move around.
Tools and Devices
There are also a variety of tools and mechanical devices that can help if you have ALS:
Splints, reach extenders, and grab-bars: They can help you get around as the disease progresses.
Canes, walkers, and wheelchairs: They can help you stay mobile even as your ability to walk fades.
Computerized voice synthesizers: These are available when you lose the ability to speak. In the final stages of the illness, only about a quarter of people can talk clearly enough to be understood.