Amyotrophic Lateral Sclerosis (ALS), or Lou Gehrig's disease, is a progressive neurodegenerative disorder affecting motor neurons in the brain and spinal cord, which control voluntary muscle movements. As motor neurons degenerate and die, communication between the brain and muscles ceases, leading to muscle weakness, atrophy, and loss of voluntary movement. ALS eventually impacts essential functions like speaking, swallowing, and breathing.
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The exact cause of ALS (Amyotrophic Lateral Sclerosis) is unknown, but it’s believed to result from a combination of genetic and environmental factors, with some cases being linked to specific gene mutations.
Familial ALS: About 5-10% of ALS cases are familial, meaning they are inherited, and are linked to mutations in specific genes.
Common Genes: Mutations in genes like C9orf72, SOD1, TARDBP, and FUS are known to cause familial ALS.
Sporadic ALS: While most cases of ALS (about 90-95%) are sporadic, meaning they don’t have a clear family history, some studies suggest that genetic factors may play a role in these cases as well.
Epigenetics: In addition to genetic mutations, epigenetic mechanisms (changes in gene expression without altering the DNA sequence) are also thought to be involved in ALS.
Exposure to Toxins: Some studies suggest that exposure to certain environmental toxins, heavy metals (lead, mercury), pesticides, or other chemicals may increase the risk of ALS.
Military Service: Certain studies have found that military veterans, especially those deployed during the Gulf War, may have an increased risk of developing ALS.
Smoking: Smoking is considered a possible environmental risk factor for ALS, with studies suggesting that smokers have a higher risk of developing the disease.
Trauma: Some studies suggest that trauma, including head injuries, may increase the risk of ALS.
visible muscle wasting, slurred speech, changes in voice quality (thick or nasal), trouble holding the head upright, and pseudobulbar affect (inappropriate emotional responses).
Genetic predisposition in familial ALS.
Environmental exposures such as toxins or smoking.
Military service has been associated with higher risk.
ALS typically affects adults between ages 40–70 but can occur at any age. Risk increases with age up to 75.
Early onset may manifest as muscle weakness in one limb or slurred speech.
Progression leads to widespread disability affecting mobility, speech, swallowing,
Speech-sy’s assessment for Amyotrophic Lateral Sclerosis (ALS) focuses on identifying and managing speech and swallowing difficulties, which are common bulbar symptoms, and may include a patient self-report, oral motor exam, and speech samples to assess dysarthria and dysphagia.
A patient self-report questionnaire helps to understand the impact of speech and swallowing difficulties on daily activities.
This assesses the strength, range of motion, and coordination of the muscles used for speech and swallowing.
Given that dysphagia is common in ALS, SLPs conduct thorough swallowing assessments:
Clinical Swallow Evaluation: Observing the patient during eating or drinking to assess swallowing safety and efficiency. This includes noting any signs of aspiration or difficulty.
Speech-sy’s focus in management of conditions such as swallowing difficulties and communication difficulties such as
Augmentative and Alternative Communication (AAC):Introducing AAC systems early in the disease progression helps maintain communication abilities as verbal skills decline. Options include:
Techniques aimed at improving speech intelligibility include:
Encouraging patients to record their voice early in the disease process for use with AAC devices later on, preserving their unique voice for future communication.
ALS, also known as Lou Gehrig's disease, is a progressive neurodegenerative condition that affects nerve cells (motor neurons) in the brain and spinal cord. These neurons control voluntary muscle movement, and as they deteriorate, patients experience muscle weakness, loss of movement, and eventually, difficulties in speaking, swallowing, and breathing.
The exact cause of ALS is unknown. However, both genetic and environmental factors play a role. About 5–10% of cases are inherited (familial ALS), while the majority are sporadic. Risk factors include genetic mutations, exposure to toxins, smoking, military service, and age (commonly 40–70 years).
Early symptoms may include muscle weakness in the arms or legs, slurred speech, muscle cramps, and twitching. As the disease progresses, individuals may face difficulty in walking, speaking clearly, swallowing, or breathing, along with visible muscle wasting.
ALS often leads to bulbar symptoms, which affect speech and swallowing. Assessment includes oral motor exams, speech sample analysis, and swallowing evaluations like VFSS and FEES. These help Speech-Language Pathologists (SLPs) tailor intervention strategies for improved communication and safe swallowing.
While there is no cure, management includes:
Swallowing therapy, food/liquid modifications, and safe swallowing strategies.
Communication support with AAC (Augmentative and Alternative Communication) devices and voice banking.
Cognitive-communication assessments for patients showing signs of cognitive decline.
These approaches help maintain quality of life, independence, and social interaction.
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