Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS) refers to a variety of conditions known collectively as motor neuron diseases. ALS is often referred to as Lou Gehrig’s disease, named after a well-known baseball star who suffered from it.

What is amyotrophic lateral sclerosis?

Amyotrophic lateral sclerosis is a rare neurological condition that mostly affects the nerve cells that regulate the voluntary muscles that support movements such as talking, walking, and chewing.

ALS is brought on by the worsening and demise of the targeted motor neuron cells that form muscles and part of the spinal cord. Motor neurons lose their ability to communicate with the muscles as they age, which causes the muscles to deteriorate progressively, twitch, and die. As a result, the capacity of the brain to produce and regulate voluntary motions ultimately declines.

There are two basic forms of ALS: familial and sporadic. Most people in the US are affected by a sporadic form of ALS, which happens randomly and without cause. While familial ALS disorder only affects a small percentage of individuals and is believed to be inherited.

What are the symptoms of ALS?

ALS symptoms develop slowly and get worse over time. With this condition, your limb may begin to weaken, lasting for several days or weeks. Some people may experience slurred speech or difficulty swallowing as their first disease symptom. But as the disorder progresses, you will notice more and more signs.

Early symptoms of ALS usually include:

• Muscle twitching and cramping, particularly in the hands, limbs, and tongue
• Inability to fully utilize your arms and legs
• Periods of hysterical crying or laughing
• Loss of motor control in the hands and arms
• Difficulty conveying the voice and slurred or thick speech
• Dropping things
• Lasting fatigue
• Falling and tripping

As the condition worsens, patients may experience symptoms like:

• Breathing difficulties
• Paralysis
• Chewing and swallowing difficulties

Some ALS patients may develop frontotemporal dementia, related to decision-making dysfunction and memory loss.

Who gets ALS?

ALS is most commonly seen in the United States, where it affects more than 16,000 Americans. Outside of the US, it might impact 2-5 people out of every 100,000. Men have a 20% higher rate of ALS diagnosis than women. But as people get older, the gender gap in diagnoses begins to close.

Typically, patients with ALS are between the age of 40 and 70, with an average of 55 at the time of diagnosis. The disease does, however, sometimes affect people in their 20s and 30s.

What are the risk factors for ALS?

Some of the established risk factors for ALS include:

• Age: ALS symptoms can emerge at any age, although they typically first appear in people in their late 50s or early 60s.
• Race: Despite the fact that anyone can develop the illness, Caucasian and non-Hispanic people have higher rates of ALS development.
• Military service: Military veterans get ALS more often than their non-military counterparts. The reason is still unclear, but it might be caused by exposure to particular chemicals, severe wounds, viral infections, or overexertion.
• Heredity: Most people with familial ALS have a 50/50 risk of passing the disease on to their children.
• Hormones: women appear to be the most at-risk after menopause.
• Gender: Men are slightly more likely than women to develop ALS before age 65. After age 70, the sex difference is no longer present.

What causes ALS?

Experts are still unclear on what may lead to ALS. However, the condition has been linked to causes like:

Genetics

Genetic variation accounts for 20 to 40% of familial (hereditary) ALS cases. Additionally, the SOD1 gene mutation, essential for properly operating motor neurons and other cells, accounts for 12 to 20% of family cases.

Genetic issues that lead to ALS can also result from improper protein processing by nerve cells. In this case, atypical proteins may build up and kill the nerve cells. It may also result from an unregulated immune reaction that attacks some of the body’s cells and perhaps even kills nerve cells.

Chemical imbalance in ALS patients leads to increased concentrations of glutamate, a brain chemical close to the motor neurons. High levels of glutamate may be harmful to nerve cells.

Environmental factors

Environmental variables, including exposure to chemicals during combat or intensive physical activity, may raise the risk of ALS in some veterans and athletes.

How is ALS diagnosed?

Based on symptoms, a medical provider will perform tests such as:

• Blood, urine, and thyroid tests
• Electrodiagnostic tests
• X-ray
• Muscle biopsy
• Magnetic resonance imaging (MRI)

How is ALS treated?

While there is no cure for ALS, therapeutic options can help control symptoms, prevent complications, and make coping with the condition easier. Some treatment options include:

• Medications: The Food and Drug Administration (FDA) has approved medications for the treatment of ALS, including riluzole and edaravone.
• Communication support: Patients with ALS who struggle to speak may benefit from a speech therapist, who may help them gain adaptive skills for speaking clearly.
• Nutritional support: This can assist ALS patients in planning and preparing meals that offer adequate fiber, fluid, and calories, as well as avoiding foods that are challenging to swallow.
• Occupational and physical therapy: While occupational therapists can assist in acquiring devices such as ramps and wheelchairs to preserve energy and maintain mobility, physical therapists can propose activities that can strengthen your muscles.
• Breathing support: For ALS patients with breathing difficulties, your doctor may recommend noninvasive ventilation or mechanical ventilation if the condition worsens.

What ALS research is being performed?

The National Institute of Neurological Disorders and Stroke (NINDS) is conducting various studies to understand ALS better. Its primary focus is on the mechanisms at play in the disease’s genesis and progression, as well as the impact of genetics and other relevant risk factors. They also want to find biomarkers and invent new treatments. Some of the research areas include:

Epigenetics

NINDS is undertaking studies to determine how ALS symptoms vary over time in persons with C9ORF72 mutations. They also study other genes that may trigger or put someone at risk for sporadic or familial ALS.

Cellular defects

The current research attempts to comprehend the mechanisms that preferentially cause motor neurons to deteriorate in ALS, which might lead to successful techniques for halting this process.

Motor neuron death appears to be triggered by various cellular abnormalities associated with protein recycling and epigenetic regulation. Increasing data also indicates that glial support cells and nervous system inflammatory cells may play a crucial role in ALS.

Stem cells

Scientists are transforming ALS patients’ skin cells into stem cells. They intend to understand better the function of the neurons linked to ALS.

Living with ALS

ALS disease causes impairment and, possibly, death. Patients with ALS often have difficulty moving and breathing. This illness, on the other hand, doesn’t affect your cognitive ability. Thus, you and your family need to team up with your health practitioner to address symptoms as they arise.

ALS rehabilitation at Brooks Rehabilitation

At Brooks Rehabilitation, we understand the difficulties that ALS patients and their loved ones face. We demonstrate our excellence in care by being compassionate and consistently providing the highest quality of treatment.

Some of our ALS treatment options include physical therapy, occupational therapy, Brooks alternative voices program, and neuro recovery centers. All of these therapies and facilities are designed to satisfy your therapeutic requirements and support good health. Contact our team today to see how we can help manage your condition.