Amyotrophic Lateral Sclerosis / ALS

Amyotrophic Lateral Sclerosis is the most common fatal neurodegenerative disease involving the motor neuron system. The disease is characterized by a progressive loss of upper and/or lower  motor neurons, resulting in muscle weakness and wasting.

Most of the ALS cases are sporadic and the precise mechanism underlying the disease is unknown; however studies conducted on the few familiar cases of ALS, have emphasized the role of SOD1 and similar genes involved in the elimination of free radicals from the cells. In one third of the patients, symptoms begin with limb involvement: weakness, reduced finger dexterity, stumbling, cramps and, eventually, loss of function and clear muscle atrophy. The remaining third of the patients presents with bulbar symptoms: dysarthria and dysphagia, nasal voice, tongue fasciculations.

The diagnosis is primarily clinical and, especially during the first phases of the disease, is not straightforward; hence it must be supported by other tests, including nerve conduction study, electromyography and muscle biopsies. A multidisciplinary team of health care professionals (including neurologists, physical therapists, laryngologists, psychologists etc.) is crucial to control symptoms and improve the quality of life in these patients. Riluzole (an antagonist of glutamate receptors) is currently the only FDA-approved medication, however it can only delay the tracheostomy-free survival by 2-3 months. 

Useful links:

http://www.alsa.org

http://alsod.iop.kcl.ac.uk

https://dx.doi.org/10.1002%2F14651858.CD001447.pub3