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Amyotrophic Lateral Sclerosis (ALS)

_ERN-NMD DESEASES_

Versione in italiano

WHAT IS IT
Amyotrophic Lateral Sclerosis (ALS) or Lou-Gehrig’s disease is the most common motor neuron disease. The relentless motor neuron degeneration lead to a progressive muscle weakness, swallowing and respiratory impairment. In up to ten percent of the ALS patients the disease is not restricted to motor neuron, but it spreads involving the frontal brain regions causing a concomitant fronto-temporal dementia (FTD). The mean age of symptoms onset is about 60 years, male sex is slightly more affected than female. The disease mechanism underlying ALS are still unknown, however in a minority of cases, about five to ten percent, ALS might be directly inherited from a person's parents (familial ALS). Familial cases usually have younger disease onset and one or more relative affected by the same disease. The most common ALS related genes are C9orf72, SOD1, TARDP e FUS. Unfortunately, the underlying disease mechanism for the remaining 90-95 percent of ALS cases are still elusive, the interplay between genetic, environmental, and other unknown factors might be responsible of a multifactorial disease.

HOW DO WE RECOGNIZE IT
Nowadays, the neurological examination still remains pivotal in establishing the correct diagnosis. Physicians seek for motor neuron degeneration signs at the bedside evaluation, furthermore, electrodiagnostic (such as electromyography), neuroradiological (MRI of brain and spinal cord) and laboratory exams are performed in order to rule out some neurological conditions which may mimic ALS.

HOW DO WE TREAT IT
Unfortunately, Riluzole is the only current available treatment, which is helpful in slowing down the disease progression. This is a neuroprotective drug which try to spare motor neuron from a progressive degeneration.

WHAT DO WE DO IN OSPEDALE SAN RAFFAELE
We perform an accurate neurological assessment, electrodiagnostic, neuroradiological and laboratory examination to establish an early ALS diagnosis and appropriate treatment. Inpatients underwent to a multidisciplinary assessment of the respiratory, swallowing, and cognitive functions. Several experimental drugs are available through clinical trials. Lastly, we are daily working in our research laboratories to identify causative disease mechanisms and novel candidate pharmacological treatments.


REFERRING DOCTORS for this desease
at Ospedale San Raffaele

Ospedale San Raffaele - Milano, via Olgettina 60, 20132 Milano, Italia - Tel. 02 26 431
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