Symptoms and Diagnosis

The initial symptoms of ALS can be quite varied in different people. One person may have trouble grasping a pen or lifting a coffee cup, while another person may experience a change in vocal pitch when speaking. ALS is typically a disease that involves a gradual onset which is why it may take some time to diagnose.

Symptoms

Amyotrophic lateral sclerosis (ALS) is a complex disease with a range of symptoms that gradually affect various aspects of an individual's physical and, in some cases, cognitive functioning.

Muscle Weakness: One of the earliest and most prevalent symptoms of ALS is muscle weakness. It often begins in a specific part of the body, like a hand or leg, and then spreads. Weakness may make it difficult to perform everyday tasks, such as lifting objects or climbing stairs.

Muscle Atrophy: As the disease progresses, muscle atrophy (shrinkage) occurs. Affected muscles become smaller and visibly weaker, contributing to a loss of muscle mass and overall strength.

Spasticity: ALS can lead to stiffness in the muscles which may result in the muscles becoming tight and resistant to movement. Over time, this leads to difficulty controlling them.

Difficulty Speaking: Many individuals with ALS experience changes in speech, including slurred or unclear speech. This results from muscle weakness in the tongue and throat.

Swallowing Difficulties: Weakened throat muscles can lead to problems with swallowing. Individuals may have difficulty swallowing food and liquids and may be at risk of choking or aspirating.

Breathing Problems: As ALS progresses, it can affect the muscles used for breathing. When the breathing muscles become affected, ultimately, people with the disease will need permanent ventilatory support to assist with breathing.

Fatigue: Weakness and muscle loss can lead to significant fatigue. Individuals may feel tired and have decreased endurance. It is important for people with ALS to make sure they allow time to rest as their "energy bank" isn't as full as it once was.

Unintentional Weight Loss: Due to difficulties with swallowing and eating, many people with ALS experience unintentional weight loss. It is important to ensure people with ALS are getting the right amount of nutrition.

Cramps and Twitching: Muscle cramps and fasciculations (muscle twitches) are common early symptoms of ALS. While these are not unique to ALS and can occur for various reasons, they can be an initial sign of the disease.

Cognitive Changes: Some individuals with ALS may experience cognitive changes, particularly a type of dementia known as frontotemporal dementia (FTD). These changes can result in alterations to their personality, decision-making, and social behavior.

Pseudobulbar Affect: Some people with ALS may exhibit emotional lability, which is characterized by uncontrollable outbursts of laughter or crying that are disproportionate to the person's actual emotional state.

Pain and Discomfort: ALS can cause physical discomfort and pain due to muscle weakness and changes in muscle and joint alignment.

Since ALS attacks only motor neurons, the sense of sight, touch, hearing, taste and smell are not affected. For many people, muscles of the eyes and bladder are generally not affected.

It's important to note that the progression of ALS and the specific combination of symptoms varies from person to person. Early diagnosis and prompt medical evaluation are crucial to provide support, symptom management, and potential interventions to improve the quality of life for individuals living with ALS.

Mature patient talking to doctor while sitting in examination room in clinic. Female healthcare worker advising senior man in doctor's office.

Diagnosis

The diagnosis of amyotrophic lateral sclerosis (ALS) can be a complex and sometimes lengthy process. It typically involves a series of medical assessments, tests, and consultations with healthcare professionals. A diagnosis process may include:

Clinical Evaluation: The process often begins with a visit to a primary care physician, neurologist, or neuromuscular specialist. The healthcare provider will conduct a thorough clinical evaluation, which includes reviewing medical history, conducting a physical examination, and discussing the presenting symptoms. This step helps to rule out other possible causes of the symptoms.

Electromyography (EMG) and Nerve Conduction Studies: One of the key diagnostic tests for ALS is electromyography (EMG) and nerve conduction studies. During an EMG, a neurologist or neuromuscular specialist inserts fine needles into various muscles to record electrical activity. This test can identify abnormalities in the function of motor neurons and muscles.

Imaging Studies: While there is no specific imaging test that definitively diagnoses ALS, certain studies can help rule out other conditions. Magnetic resonance imaging (MRI) and computed tomography (CT) scans may be used to evaluate the brain and spinal cord, ruling out structural abnormalities or other neurological conditions.

Blood and Urine Tests: Blood and urine tests are typically performed to rule out other potential causes of muscle weakness and neurological symptoms. These tests can help exclude conditions like vitamin deficiencies, metabolic disorders, or infections.

Genetic Testing: For some individuals, especially those with a family history of ALS, genetic testing may be recommended. Mutations in specific genes, such as C9orf72, SOD1, and FUS, are associated with familial ALS (FALS). Identifying these mutations can provide additional diagnostic clarity.

Clinical Criteria: In addition to the above tests, the diagnosis of ALS often relies on clinical criteria and the presence of specific signs and symptoms. The El Escorial criteria is often used to help neurologists diagnose ALS.

Second Opinions: Due to the complexity of ALS and the potential for a delayed diagnosis, seeking a second opinion from a neurologist or ALS specialist is often recommended, especially if there are uncertainties or if the progression of symptoms is unclear.

Regular Follow-Up: After a diagnosis is established, individuals with ALS are encouraged to seek follow-up care from a multi-disciplinary team of healthcare professionals, including neurologists, nurses, physical therapists, occupational therapists, pulmonologists, social workers, speech therapists, and others to manage symptoms and provide support.

It's important to note that ALS can be challenging to diagnose because there is no single definitive test for the disease, and its symptoms can overlap with other conditions. The diagnosis process often involves eliminating other possible causes through a combination of medical evaluations and tests. Early diagnosis is crucial, as it allows for prompt intervention and support to help manage symptoms and improve the quality of life for individuals living with ALS. See the list of ALS Clinics and Centers in the Greater San Diego area. You can also contact us.