Overview
Amyotrophic lateral sclerosis (ALS) is a nervous system disease that affects nerve cells in the brain and spinal cord, leading to loss of muscle control. The disease progressively worsens over time, and currently, there is no cure. ALS often begins with muscle twitching, weakness in an arm or leg, trouble swallowing or slurred speech. It eventually affects the control of muscles required for movement, speech, eating, and breathing. The exact cause of ALS is still unknown, and although some cases are inherited, most cases are not. ALS is often referred to as Lou Gehrig's disease after the baseball player who was diagnosed with it.
Understanding the disease
Symptoms
The symptoms of amyotrophic lateral sclerosis (ALS) include trouble walking or doing usual daily activities, tripping and falling, weakness in the legs, feet, or ankles, hand weakness or clumsiness, slurred speech or trouble swallowing, weakness associated with muscle cramps and twitching in the arms, shoulders, and tongue, untimely crying, laughing, or yawning, and thinking or behavioral changes. ALS can also cause muscle weakness that spreads and gets worse over time, affecting muscles needed to move, speak, eat, and breathe. There is no cure for this fatal disease.
Risk Factors
Risk factors for developing amyotrophic lateral sclerosis (ALS) include genetics, age, sex, and environmental factors such as smoking. About 10% of people with ALS have a hereditary form of the disease, and risk increases with age, particularly between the ages of 60 and mid-80s. Men are slightly more likely to develop ALS before age 65, but the sex difference disappears after age 70. Smoking is an environmental risk factor for ALS, with women who smoke appearing to be at even higher risk, especially after menopause. Exposure to certain environmental toxins and military service may also be associated with an increased risk of ALS, but no specific agent or chemical has been consistently linked to the disease.
Assessment and Diagnosis
Triage
You should see a doctor if you suspect amyotrophic lateral sclerosis (ALS) if you or someone you know is experiencing muscle twitching, weakness, or loss of muscle control that worsens over time. It is important to seek medical attention if there are signs of difficulty in moving, speaking, eating, or breathing, as these are all symptoms associated with ALS. Keep in mind that there is no cure for this disease, but early diagnosis and intervention can help manage symptoms and provide support for patients and their families.
Diagnosis
To diagnose amyotrophic lateral sclerosis (ALS), doctors may use a combination of tests, including electromyogram (EMG), nerve conduction study, MRI, blood and urine tests, spinal tap, and analyzing serum neurofilament light levels. EMG and nerve conduction studies help determine if there is a problem with the muscles or nerves, while MRI provides detailed images of the brain and spinal cord. Blood and urine tests help rule out other possible causes of symptoms, and spinal fluid analysis may be performed to confirm ALS or identify other causes. High serum neurofilament light levels can also be indicative of ALS. It is important to consult with a neurologist who specializes in nervous system conditions for an accurate diagnosis.
Management and Treatment
Complications
The potential complications of amyotrophic lateral sclerosis (ALS) include:
- Muscle stiffness or spasms
- Severe weakness or paralysis, typically in the legs
- Problems with bladder, bowel or sexual function
- Cognitive problems, such as forgetfulness or word-finding difficulties
- Mood problems, such as depression, anxiety, or mood swings It's important to note that ALS is a progressive disease, and as it advances, these complications can arise and have a significant impact on the individual's quality of life.
Treatment
There is no cure for amyotrophic lateral sclerosis (ALS), and treatments focus on relieving symptoms and preserving function. Treatment options may include medications to relieve muscle spasms, pain, fatigue, excessive saliva, and phlegm, as well as physical therapy to help manage gait problems and leg weakness. Additionally, experimental treatments and clinical trials may be available for eligible patients. It's important to work closely with a healthcare provider to determine the most appropriate treatment plan based on individual needs and preferences.
Preparing for medical consultation
To prepare for an appointment for amyotrophic lateral sclerosis (ALS), you can follow these steps:
- Gather your medical records: Bring any clinical notes, scans, laboratory test results, or other information from your primary care provider or other specialists to your ALS appointment.
- Note your key medical information: Make a list of your current medications, including any vitamins or supplements, and any other medical conditions you have.
- Document personal information: Write down any recent changes or stressors in your life, as well as your ALS symptoms, including their severity, frequency, and any factors that seem to improve or worsen them.
- Prepare a list of questions: Compile a list of questions to ask your ALS specialist, such as the most likely cause of your symptoms, your disease stage, recommended tests, appropriate treatments, potential side effects, and how to manage your condition alongside other health issues.
- Bring a support person: Consider asking a family member or friend to accompany you to the appointment, as they can help you remember important information discussed during the appointment. Remember to arrive on time, be honest and open with your doctor about your symptoms and concerns, and take an active role in your care.