Amyotrophic Lateral Sclerosis (ALS)

ALS is a grave condition with no known cause or cure.  It is a disorder in which nerve cells that control muscle function disintegrate.  It involves nerve cells found in both the brain and spinal cord.

The disease usually begins in a subtle fashion.  Typically the muscles of a single limb are affected at first, either arm or leg.  The patient notices weakness and/or clumsiness, and uncontrollable twitching (or fasciculation) of the muscles.

Eventually the disease spreads to involve all of the voluntary muscles of the body including those used to control speech and swallowing.  The disease progresses rapidly and leads to death within a few years.

The diagnosis can only be made clinically by an experienced neurologist and is aided by nerve and muscle (EMG/NCV) testing.

There have been some recent basic science advances into understanding how the disease begins, and work has shown that mutations in the Superoxide Dismutase (SOD) gene can lead to familial forms of ALS.  The familial variant only accounts for 5% of total cases, however.

There is currently no known cure and no effective treatment, so much research is being done.