The ALS

Amyotrophic Lateral Sclerosis (ALS) is a degenerative disease of the central nervous system characterized by the degeneration of motor neurons. Motor neurons are the nerve cells responsible for controlling the contraction of the body's voluntary muscles, thus providing different functions including walking, grasping objects, swallowing, and speaking. 

What does it look like?

It can vary from patient to patient and with different symptoms depending on which body district is primarily affected. 

• Spinal (about 66%), characterized by muscle weakness and motor impediment in one or more limbs 

• Bulbar (about 33%), characterized by dysarthria, or difficulty articulating words, and dysphagia, or difficulty swallowing 

• Respiratory (about 1%), characterized by dyspnea, or difficulty breathing

Although the main symptoms of ALS are motor, up to 50% of patients show signs of mild cognitive and/or behavioral impairment during the course of the disease, which in 15% come to configure a so-called Frontotemporal Dementia (FTD). 

What are the causes?

In most patients, the cause of ALS is unknown and the disease is thought to be due to the interaction of genetic and environmental factors. In a smaller percentage of cases, the disease is caused by mutations in genes with a wide range of functions. 

The ALS Center in Turin offers patients the option of genetic analysis. In contrast, no clear disease-related environmental risk factors have yet been identified, although it appears that some factors, including cigarette smoking and strenuous physical activity, may slightly increase the risk of developing the disease. 

How is it diagnosed?

ALS is difficult to diagnose because it resembles other diseases of the nervous system and muscles. A correct diagnosis requires a thorough clinical history and objective examination leading to the following checks: 

• Electromyography (EMG) 

• Radiological examinations, including MRI of the brain and, if necessary, the spine 

• Laboratory tests on blood and urine 

These tests are aimed both at assessing motor neuron nerve activity and aimed at excluding all those diseases with symptoms similar to the one investigated. 

What does the disease entail?

In its more advanced stages, there may be a need for: nutritional support by an alternative, intravenous or enteral route, through the placement of a nutritional probe - e.g., PEG/RIG (Percutaneous Endoscopic/Radiological Gastrostomy), which is a catheter placed in the stomach through a small cut at the level of the abdominal wall. The catheter is then connected to feeding bags, which allow nutrient mixtures to pass into the stomach, bypassing the upper digestive tract. a breathing support, either through noninvasive methods (face mask connected to a portable respirator) or invasive methods (tracheostomy surgery).

Is there a cure?

To date, unfortunately, there is no curative treatment available. Only one drug in the world has proven effective in slowing the course of the disease: Riluzole has been commercially available since 1996.

There continues to be an active mode of administration of Tofersen through the early access, compassionate use program regulated by the ministerial decree of September 7, 2017 for certain types of affected patients with specific mutations in the SOD1 gene.