Lecture on Amyotrophic Lateral Sclerosis (ALS)

These flashcards cover key vocabulary and concepts related to Amyotrophic Lateral Sclerosis (ALS), including mechanisms, subtypes, and notable figures associated with the disease.

Amyotrophic Lateral Sclerosis (ALS)

A neurodegenerative disease that affects motor neurons in the brain and spinal cord, leading to muscle atrophy and weakness.

Bulbar Onset ALS

A subtype of ALS that primarily affects the muscles of the face, resulting in difficulty speaking and swallowing.

Lower Motor Neurons

Nerve cells that connect the spinal cord to muscles that control movement, which can be affected in ALS.

Respiratory Onset ALS

A subtype of ALS focused on the innervation of respiratory muscles, leading to more rapid progression.

TDP-43

A protein associated with ALS pathology, involved in mRNA processing and found in abnormal aggregates in affected neurons.

Frontotemporal Dementia

A neurodegenerative condition that can occur in some ALS patients, affecting personality, behavior, and cognitive function.

Familial ALS

A type of ALS with a genetic component, making up about 10% of all ALS cases and characterized by inherited mutations.

Sporadic ALS

The more common type of ALS (about 90% of cases) that occurs without a clear genetic cause.

C9orf72

A gene linked to familial and sporadic ALS that involves nucleotide repeat expansions.

Chronic Inflammation

A condition frequently observed in ALS, involving the activation of the immune system that may contribute to neurodegeneration.

Stephen Hawking

A renowned physicist who had ALS and notably survived for over fifty years after his diagnosis, demonstrating exceptional medical care.

Primary Lateral Sclerosis (PLS)

A rare form of ALS affecting only the upper motor neurons, often with better prognosis and longer survival.

Progressive Muscular Atrophy

A form of ALS that primarily impacts lower motor neurons, often with a comparatively better life expectancy.

Stress Granules

Aggregated complexes that form under cellular stress conditions and can contribute to neurotoxicity in ALS.

Familial ALS Genes

Mutated genes such as SOD1 and FUS linked to hereditary ALS cases.

Neurodegeneration

The progressive loss of structure or function of neurons, a central feature in ALS pathology.

Oxidative Stress

An imbalance between free radicals and antioxidants in the body, implicated in the pathogenesis of ALS.

Amyotrophic Lateral Sclerosis (ALS)

A neurodegenerative disease that affects motor neurons in the brain and spinal cord, leading to muscle atrophy and weakness.

Bulbar Onset ALS

A subtype of ALS that primarily affects the muscles of the face, resulting in difficulty speaking and swallowing.

Lower Motor Neurons

Nerve cells that connect the spinal cord to muscles that control movement, which can be affected in ALS.

Respiratory Onset ALS

A subtype of ALS focused on the innervation of respiratory muscles, leading to more rapid progression.

TDP-43

A protein associated with ALS pathology, involved in mRNA processing and found in abnormal aggregates in affected neurons.

Frontotemporal Dementia

A neurodegenerative condition that can occur in some ALS patients, affecting personality, behavior, and cognitive function.

Familial ALS

A type of ALS with a genetic component, making up about 10% of all ALS cases and characterized by inherited mutations.

Sporadic ALS

The more common type of ALS (about 90% of cases) that occurs without a clear genetic cause.

C9orf72

A gene linked to familial and sporadic ALS that involves nucleotide repeat expansions.

Chronic Inflammation

A condition frequently observed in ALS, involving the activation of the immune system that may contribute to neurodegeneration.

Stephen Hawking

A renowned physicist who had ALS and notably survived for over fifty years after his diagnosis, demonstrating exceptional medical care.

Primary Lateral Sclerosis (PLS)

A rare form of ALS affecting only the upper motor neurons, often with better prognosis and longer survival.

Progressive Muscular Atrophy

A form of ALS that primarily impacts lower motor neurons, often with a comparatively better life expectancy.

Stress Granules

Aggregated complexes that form under cellular stress conditions and can contribute to neurotoxicity in ALS.

Familial ALS Genes

Mutated genes such as SOD1 and FUS linked to hereditary ALS cases.

Neurodegeneration

The progressive loss of structure or function of neurons, a central feature in ALS pathology.

Oxidative Stress

An imbalance between free radicals and antioxidants in the body, implicated in the pathogenesis of ALS.

Early Symptoms of ALS

Progressive muscle weakness, fasciculations (muscle twitching), muscle cramps, and difficulty with motor skills like walking or speaking.

Diagnosis of ALS

Primarily a clinical diagnosis based on neurological examination, supported by electromyography (EMG), nerve conduction studies (NCS), and ruling out other conditions.

Average Life Expectancy for ALS Patients

Typically 2 to 5 years from the onset of symptoms, though individual variability exists, as exemplified by cases like Stephen Hawking.

General Management of ALS

Focuses on symptomatic relief, supportive care (e.g., respiratory support, nutritional assistance), physical therapy, and medications to slow disease progression.