Amyotrophic Lateral Sclerosis (ALS) is a severe neurodegenerative disease that appears in adulthood and affects motor neurons, i.e. the nerve cells that allow the movement of voluntary muscles.
It causes the progressive loss of abilities such as swallowing (dysphagia), speech (dysarthria) and control over skeletal muscles, eventually leading to the impairment of respiratory muscles and need of assisted ventilation.
It is also known as Charcot’s disease (from the French neuropathologist who first described it in 1860), or Lou Gehrig’s disease (from the U.S. baseball player stricken by the disorder when he was at the height of his career).
The cause is currently unknown; among other hypotheses there is genetic predisposition, a high rate of glutamate, antibodies excess, environmental factors or a virus.
The onset of ALS is generally silent; initial symptoms include muscle weakness, involuntary muscle contractions called fasciculations, atrophy and muscle stiffness, indistinct voice or nasal tone.
With the progression of the disease the number of muscles involved increases; ALS patients have increasing problems moving, swallowing (dysphagia) and articulating words (dysarthria), and ultimately respiratory muscles are compromised:
- Inadequate inspiratory muscles: shortness of breath (dyspnea) and increased respiratory rate, sleep apnoea resulting in daytime fatigue and morning headaches;
- Insufficient expiratory muscles: difficulty to cough and clear bronchial secretions, frequent respiratory infections.
Usually the disease does not impair cognitive functions, intelligence or perception; control over ocular muscles is the longest preserved function.
Cures and Therapy
At the present time a cure is yet to be found; therapies are thus focused on symptoms:
- Motors symptoms are tackled with mechanical aids (wheelchairs, electric beds, stair lifts, etc.) and specific strategies developed by the physiatrist and physiotherapist to preserve mobility as long as possible.
- Respiratory symptoms:
- Respiratory failure is initially resolved with non-invasive mechanical ventilation: C-PAP, positive pressure ventilation like the Bilevel or negative pressure ventilation with a cuirass or ventilation chamber. Before the BiPAP treatment becomes insufficient, the patient should decide whether or not undergo tracheotomy and long-term mechanical ventilation.
- Secretion management is achieved through specific physiotherapy exercises and the use of a cough assistant.
- Dysphagia and feeding problems: PEG (Percutaneous Endoscopic Gastrostomy)
- Communication: eye pointer, i.e. a medical device that allows eye communication with a computer