Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord. It causes voluntary muscles to lose control, ultimately affecting the ability to move, speak, eat, and breathe. Although the cause is often unknown, genetic mutations play an important role in familial cases.

Predisposition

Certain environmental and genetic factors increase the likelihood of developing ALS.

Smoking

Increases risk, especially for women.

Exposure to toxins

Prolonged exposure to heavy metals or pesticides is associated with increased risk.

Intense physical activity

A potential link between vigorous physical effort and the development of ALS.

Physical trauma

Some studies suggest that repeated head injuries may increase the risk of ALS.

Symptoms

The symptoms of ALS vary but generally involve progressive muscle weakness.

Early symptoms

Muscle fasciculations (twitching) and cramps.
Weakness in the limbs or slurred speech.

Progression

Difficulty swallowing (dysphagia) and breathing.
Paralysis as the disease progresses.

Cognitive disorders

In some cases, frontotemporal dementia (FTD) develops.

Diagnostic

Diagnosing ALS involves ruling out other conditions and confirming neurodegeneration.

Electromyography (EMG)

Measures the electrical activity of muscles to identify nerve damage.

Nerve Conduction Studies (NCS)

Evaluate the transmission of signals by nerves.

Genetic tests

Detects mutations such as SOD1, C9, or F72, and FUS in familial ALS cases.

MRI

Excludes structural abnormalities such as tumors.

Therapy

Although there is no cure, treatments focus on symptom management and quality of life.

Medications

Riluzole: Slows the progression of the disease by reducing glutamate levels.
Edaravone: May slow the decline in daily functions.

Maintaining mobility and independence

Physiotherapy to maintain mobility and reduce falls.