ALS Disease

Amyotrophic lateral sclerosis, abbreviated as ALS, is a disorder that affects the brain and spinal cord, causing damage to nerve cells. As this disease progresses, voluntary muscle control weakens and continues to deteriorate over time. Functions such as speaking, swallowing, and walking are among the voluntary muscle movements that can be affected as a result of ALS. While there is currently no established treatment method for ALS, various treatment approaches have been developed through research to alleviate symptoms and help individuals achieve a longer lifespan. One notable individual who was diagnosed with this condition is Lou Gehrig, a famous baseball player in the 1930s. For this reason, ALS is sometimes referred to as Lou Gehrig's disease in some sources. You can follow the continuation of this text for other topics you may be curious about regarding ALS.

What is ALS Disease?

ALS is a degenerative disorder that targets the cells in the structures of the nervous system, such as the brain and spinal cord. With the onset of the disease, control over the muscles gradually diminishes. Although the exact cause of this disease is not yet fully understood, a small percentage of patients experience familial transmission.

Initially, ALS manifests with symptoms such as muscle twitching, weakness in the arms and legs, difficulty swallowing, and challenges in speaking. Over time, the worsening condition makes it increasingly difficult for individuals to move, speak, eat, and breathe.

What are the Symptoms of ALS Disease?

The symptoms of ALS can vary from person to person. The manifestations may also differ depending on which nerve cells are affected. ALS typically presents itself initially with muscle weakness and progressively worsens over time. Other potential complaints that may arise can be summarized as follows:

• Difficulty walking and performing other daily activities
• Frequent tripping and falling
• Weakness in the legs, feet, and ankles
• Weakness and clumsiness in the hands
• Difficulty in speech and swallowing
• Fatigue due to cramps and twitches in the muscles
• Episodes of uncontrollable laughter, crying, or yawning
• Cognitive and behavioral changes

ALS generally starts with hand or foot paralysis and tends to progress from one side of the body to the other. As the number of dead nerve cells increases, so does the severity of muscle weakness and symptoms. This progression can ultimately lead to an inability to perform vital functions such as chewing, speaking, swallowing, and breathing.

In the early stages of ALS, there is typically no complaint of pain. In fact, it is generally noted that even in the advanced stages of ALS, pain is not a commonly reported symptom. Additionally, due to the rare involvement of the muscles responsible for bladder function, complaints such as urinary incontinence are not frequently observed. Sensory functions such as taste, smell, touch, and hearing are usually preserved.

What Causes ALS?

According to the Centers for Disease Control and Prevention (CDC), approximately 2 to 5 out of every 100,000 people worldwide may be affected by this disease. Some risk factors that may be involved in the onset of the disease can be summarized as follows:

• Gender: ALS is a condition that is diagnosed more frequently in men than in women, even at a low level. The difference in incidence between the two genders diminishes after the age of 70.
• Age: Symptoms related to ALS typically begin to manifest towards the end of a person’s 50s or in their early 60s. It should be noted that symptoms may also occur outside of these age groups in some individuals.
• Race: Individuals with lighter skin tones may have a higher likelihood of developing ALS.

ALS is generally classified into two subtypes: sporadic and familial. Sporadic ALS cases can randomly occur in any individual and are estimated to account for approximately 90-95% of all cases. There is no specific risk factor or cause definitively identified for sporadic cases.

Familial ALS can be detected in approximately 5-10% of ALS cases. This group of patients, defined as having familial ALS, may experience various symptoms even in early adulthood, though such occurrences are rare.

How is ALS Diagnosed?

The diagnostic approach to ALS involves taking a patient's medical history, conducting a physical examination, and utilizing various tests. Currently, there is no single test that can solely diagnose or rule out this disease. It is essential to exclude other diseases that may cause similar symptoms through various neurological evaluations and tests. The tests that can be applied for this purpose include:

• Medical History Evaluation: This refers to questioning the individual suspected of having the disease about any other health issues and medications they may be taking.
• Neurological Examination: During this stage, the patient's reflexes and muscle strength are assessed. Repeating the examination helps to determine the status of symptoms and whether they are progressing. While sensory nerve functions are typically preserved in ALS patients, reflexes begin to diminish during the early stages of the disease. As the disease progresses, muscle weakness becomes quite pronounced.
• Nerve Conduction Studies: This test evaluates the level of communication between the nerves and muscles.
• Electromyography: This assesses the electrical activity in muscle fibers.
• Lumbar Puncture: In this procedure, a needle is advanced into the spinal canal to collect a fluid sample for detection of any inflammation.
• MRI: Magnetic resonance imaging allows for detailed visualization of nervous structures like the brain and spinal cord.
• Muscle Biopsy: Taking a sample of muscle tissue is important for identifying diseases that are not ALS but may cause similar symptoms. In this test, a small amount of muscle tissue is collected and sent to a laboratory for examination by pathology experts.
• Laboratory Tests: Blood and urine samples are taken for laboratory tests to evaluate the presence of any infection or to assess organ functions. These tests can also aid in ruling out other various health issues.

What Are the Treatment Methods for ALS?

Currently, treatments for ALS do not reverse nerve damage but can help alleviate symptoms and slow the progression of the disease. The therapeutic approaches employed can support individuals in maintaining independence and a comfortable lifestyle.

Medications containing the active ingredient riluzole are among those used in the treatment approach for ALS. This medication can increase the estimated lifespan of individuals by about one-quarter. Due to potential side effects such as dizziness, liver problems, and various gastrointestinal issues, it is important to regularly monitor liver functions while using this medication. In addition to riluzole, drugs containing the active ingredient edaravone may also be prescribed to individuals with ALS by their doctors. This medication generally supports the performance of daily activities. Possible side effects include bruising, headaches, and difficulty walking. In addition to medication, various supportive therapies are also part of treatment approaches for ALS:

• Supporting breathing,
• Physical therapy,
• Functional therapies,
• Speech therapies,
• Providing appropriate nutritional support.

In addition to these interventions, providing psychological and social support to individuals is also very important.

The diagnosis of ALS is considered one of the more challenging diagnoses. Particularly in the early stages, it can often be confused with multiple sclerosis or Parkinson’s disease. If you observe symptoms related to this condition in yourself or in those around you, it is advisable to consult healthcare institutions for support from specialist physicians. Wishing you healthy days ahead.