Amyotrophic Lateral Sclerosis (ALS): Symptoms, Diagnosis, & Treatment

Amyotrophic lateral sclerosis (ALS), otherwise known as Lou Gehrig’s disease, is a degenerative neuromuscular disease. Characterized by muscle wasting and weakness as a result of nerve cell degeneration, over time, the muscles become weaker. This leads to the loss of function in the hands and feet and the inability to swallow, speak, and breathe.

There are two types of ALS including sporadic and familial. According to the ALS Association, sporadic is the most common form accounting for 90% to 95% of all cases. If inherited, the disease is considered familial. Children from these families have a 50% chance of inheriting the genetic mutation and may develop the disease.

Signs & Symptoms

Mishane Hightower, a respiratory therapist at Vibra Rehabilitation Hospital of Amarillo, explains, “ALS causes degeneration of the motor neurons, which connect your brain and spinal cord to the muscles throughout your body.” Those with ALS experience symptoms like: 

  • muscle wasting 
  • muscle weakness
  • weak cough with the inability to clear secretions from the airway
  • hypoxemia, which is a low level of oxygen in the blood
  • respiratory failure 

Symptoms vary from person to person and can occur at different rates. Because of this, ALS is difficult to diagnose and extensive testing must be done to rule out other diseases. 

Diagnosis & Treatment

Diagnosis of ALS consists of nerve conduction studies, EMGs, neurological exams, pulmonary function testing, as well as any other tests deemed necessary by the physician. These tests and exams don’t ultimately diagnose ALS but they eliminate the chance that it is a different disease that mimics ALS.

While there is currently no cure, medications are available to slow the development of symptoms. In addition, various therapy treatments help to manage symptoms including physical therapy, speech therapy, and nutritional support.

Living with ALS requires adjustments to your daily routine to help with eating, getting dressed, and daily hygiene. The ALS Association has resources that outline simple changes to integrate into daily living. In addition to living adjustments, treatment modalities are available including ventilatory support, supplemental oxygen, a BiPap machine, or a mechanical ventilator.