Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressive degenerative motor neuron disease caused by damaged nerve cells. Often referred to as Lou Gehrig’s disease (Lou is a New York baseball player who had to quit the profession after he was diagnosed with the disease), it doesn’t have any known cause or cure.
In the United States, more than 5,000 men and women are diagnosed with ALS every year. On the average, a patient lives for 2 to 3 years. Around 20% survive for five years, and a small percent live for at least a decade or two.
The brain communicates with different parts of the body by sending signals that pass through “thin wires” called nerves. While some are responsible for seeing, feeling, and hearing, others aid in voluntary muscular movements such as walking, talking, and eating. The nerve cells that run from the brain to the spinal cord to the muscles are called motor neurons.
ALS is characterized by the deterioration of these motor neurons. Eventually the motor neurons die, preventing the brain signals to pass through. Thus, the brain loses any control of the muscles, and the body becomes atrophied.
The exact cause of motor neuron degeneration is still subject to intensive research. So far, more than 90% of the cases are considered sporadic. Around 10%, however, falls under Familial ALS or FALS. In FALS, more than one of the family members, usually including a parent (autosomal dominant), have been diagnosed with the condition. Patients with FALS experience the symptoms significantly earlier than those with sporadic ALS. FALS patients may also be at risk of frontotemporal dementia due to C9orf72 gene mutation.
One of the earliest researches on FALS cites mutation of genes as the one responsible for the production of SOD1 enzyme that leads to enzyme toxicity.
Because the disease affects only the motor neurons, the patient doesn’t lose his cognitive and other mental faculties. He also retains his other body functions such as seeing, hearing, and feeling.
Disease progression and symptoms vary among patients. Sometimes the loss of muscle control is so subtle that the patients end up being diagnosed when they’re already close to the advanced stages. Normally, though, patients sense something is wrong when they start to become clumsy.
The disease doesn’t have a standard examination for diagnosis. Patients often approach their general practitioners for initial evaluation. The doctor will then order diagnostics such as X-rays and if needed, MRI scans. If ALS is suspected, the patient is referred to a neurologist.
The neurologist may recommend a full body and neurological work-up including but not limited to:
If the patient is positive with ALS, the neurologist immediately develops a management and supportive care plan.
So far, Rilutek (riluzole) is the only FDA-approved drug used for ALS. It is a glutamate inhibitor that helps prolong the survival of patients for many months and improves their ability to chew and swallow.
Other medications are mainly used to provide relief of the symptoms. For example, drugs like tinzanadine may be given to reduce spasticity (muscle rigidity) while gabapentin helps in pain management. If the patient is having difficulty swallowing saliva, the doctor can also prescribe amitriptyline.
The ALS Association conducts extensive research and experiments to effectively identify the cause and cure of the disease. The $100 million funds they have obtained from the Ice Bucket Challenge, for example, will be used for ALS ACT (ALS Accelerated Therapeutics) initiative that seeks therapies that can reduce inflammation of the nerve cells while decreasing the production of certain proteins.
As the disease progresses, the neurologist may recommend the following:
Many ALS patients go through depression. Although anti-depressants can help, it may also be necessary for patients to undergo counseling and receive adequate support from family.
The patient’s doctor may also have to work closely with other health care professionals such as ENTs, nutritionists, psychologists, and therapists when creating and modifying the treatment and management plan.
Families of patients also need to adjust their lifestyles to further improve the quality of life. They may add ramps or move to single-level homes with bigger home plans for quick and efficient navigation. The patient may benefit from a health care provider such as a nurse who can quickly attend to his medical needs especially at home.