Als

Amyotrophic lateral sclerosis (ALS) is a progressively debilitating disorder that impacts the nervous system, beginning with mild symptoms that gradually worsen. This condition results in the degeneration of nerves connecting the brain and spinal cord to muscles, leading to muscle dysfunction. The resulting nerve death forms scar tissue, which contributes to the diverse symptoms of ALS. There are two main forms: Sporadic ALS, which is not inherited and makes up around 90% of cases, and Familial ALS, which is genetically inherited and comprises less than 10%. ALS, also known as "Lou Gehrig's disease," gained its nickname from the famous New York Yankees baseball player Lou Gehrig, who brought worldwide awareness to the disease after his diagnosis in 1939.

Causes

A small fraction of ALS cases, about 5% to 10%, are hereditary, linked to specific genetic mutations passed down through families with multiple ALS cases. Most ALS instances occur without a clearly defined cause, although several risk factors are recognized:

• Age: Most commonly diagnosed between ages 60 to 75.

• Sex: A slightly higher occurrence in men before age 70, but rates equalize between genders thereafter.

• Smoking: Emerging evidence suggests smoking may elevate ALS risk.

Other suspected risk factors, such as exposure to heavy metals, pesticides, repetitive head trauma, athletic activities, and certain environmental exposures during military service, remain uncertain due to insufficient evidence. Both genetic mutations, like those in the C9orf72 or SOD1 genes, and environmental factors are thought to significantly contribute to ALS onset.

Symptoms

ALS is a progressive neurological disorder primarily affecting muscle movement. Common symptoms include:

• Mild limb weakness, often one of the earliest indicators.

• Increased tripping or falling.

• Fatigue during normal activities.

• Labored breathing during routine tasks.

• Muscle twitching or spasms.

• Voice alterations such as hoarseness.

• Speech difficulties, including slurring.

• Cognitive changes, like memory loss and personality shifts.

• Excess drooling and choking hazards during eating or drinking.

• Swallowing difficulties, potentially impacting nutrition.

• Unintentional emotional responses, such as laughing or crying.

In later stages, muscle weakness exacerbates, affecting walking, hand use, and speech clarity. Although ALS doesn't typically affect sensation or bladder control, symptom management remains crucial as no current treatment can cure the disease.

Diagnosis

Diagnosing ALS can be challenging, as there is no single definitive test. Healthcare providers rely on a combination of diagnostic procedures over time. Initial steps include thorough neurological exams to observe symptom evolution. Tests like electromyography (EMG) and nerve conduction studies assess muscle and nerve function and help rule out other neurological conditions. MRI scans can visualize the brain and spinal cord to eliminate other potential causes. Blood and urine tests are routinely utilized, often to check for elevated neurofilament light levels indicative of ALS. In some cases, a spinal tap or muscle and nerve biopsies may further assist in ruling out other diseases. These comprehensive evaluations help inform an ALS diagnosis based on symptoms' progression.

Treatments

While there's no cure for ALS, treatments are available to manage symptoms and improve life quality. Medications include Riluzole, which reduces nerve damage and potentially extends survival, and Edaravone, which slows functional decline. Tofersen is offered for those with specific genetic mutations. Symptom management also involves a supportive team of physical, occupational, and speech therapists aiding in maintaining independence and communication. As respiratory muscles weaken, breathing support through physical therapy, oxygen monitors, and machines becomes essential. Cognitive therapy addresses memory and behavior changes, crucial for mental health and safety. Nutritional support is vital, given swallowing difficulties, often involving nutritionists and sometimes feeding tubes. Treatment plans are individualized, with many patients participating in clinical trials exploring new therapies.

Medications

Though no medications cure ALS, several options can help slow its progression:

• Riluzole: Recommended for all ALS patients by the American Academy of Neurology, it potentially extends survival by reducing glutamate levels.

• Edaravone (Radicava): Available in intravenous and oral forms, it reduces oxidative stress and slows disease progression.

• Qalsody: Targets harmful proteins linked to specific genetic mutations such as the SOD1 mutation, aiming to slow ALS progression.

• Nuedexta: Manages emotional symptoms like uncontrolled laughter or crying.

Given the variable nature of ALS, personalized consultation with healthcare providers is vital for optimal symptom management.

Prevention

Currently, there are no established methods to prevent ALS, with its specific triggers remaining largely unknown. Genetic and environmental factors are linked to ALS, but their exact roles are unclear. Lifestyle factors like healthy eating, regular exercise, and avoiding toxins such as pesticides, heavy metals, and cigarettes are suggested to potentially reduce risk. While some research explores supplements like carotenoids and polyphenols, none are conclusively proven to prevent ALS. Early diagnosis and symptom management take precedence, especially for those with genetic predispositions.