Amyotrophic lateral sclerosis, referred to concisely as ALS, is a progressive neurodegenerative disease which affects approximately 5,000 new people per year. Some further statistics about ALS can be found in the embedded infographic.
There is currently no known cure for ALS, which typically affects people aged between aged between 40 and 70. There is no easy way to diagnose ALS – the typical diagnostic method involves ruling out a host of other potential conditions in a process that can take months or even years.
The first recorded case of ALS was discovered by Jean-Martin Charcot, a French neurologist, in 1869. The condition became widely known in 1939, when baseball player and ALS sufferer Lou Gehrig attracted international media attention.
Thibaut de Roux and his family donate regularly to the Thierry Latran Foundation since tragically losing a close friend to ALS five years ago. The Thierry Latran Foundation is a unique European foundation dedicated exclusively to supporting industrial scientific and academic research efforts to find a cure for ALS.
The symptoms of ALS can vary from person to person in the initial stages of the condition. The most common is a progressive weakness of the muscles, which may present as fatigue in the arms and legs at an abnormal level, increased likelihood of dropping things, tripping over, muscle twitches or cramping of the muscles.
Some people may find they develop difficulty in lifting a cup or holding a pen. Others may experience vocal issues such as slurred speech or an unnatural change in vocal pitch, while others may have uncontrollable bouts of crying or laughter.
The symptoms most often, but not always, being in the areas of the body that control swallowing and speech, or in the limbs. Not all patients experience the same pattern or sequence of symptoms, but ultimately muscle weakness will progress leading to paralysis and eventually death.
Regardless of what symptoms ALS patients experience in the initial stages of the condition or what the sequence of symptoms is, with no known cure at present those symptoms will ultimately lead to death. The muscles become progressively weaker and begin to waste away, resulting in paralysis. Loss of control of vital bodily functions such as swallowing and breathing will eventually occur.
Progression is not always linear, and many patients experience periods of reversal, where their symptoms alleviate and some lost function is recovered. Unfortunately, these arrests are only ever temporary.
Testing for ALS
As stated previously, diagnosing ALS is extremely difficult. There are a range of tests doctors can perform and most patients with suspected ALS will undergo some if not all of these, unless another condition is flagged meaning there is no ALS. The tests include blood and urine studies, spinal taps, electrodiagnostic tests, biopsies of the nerves or muscles, neurological examinations, and a myelogram of the cervical spine.
The ALS Association recommends that anyone who receives a diagnosis of ALS goes on to get a second opinion from an expert who has experience of working with and diagnosing the condition. This is because many of the symptoms and test results can appear similar to those of several other, treatable conditions. A list of recognised experts can be obtained from the ALS Association.
More than nine in ten cases of ALS are sporadic, meaning they have no genetic root. However, between 5% and 10% of all cases diagnosed in the US are familial ALS, which means the condition is inherited. You can learn more about genetic testing for familial ALS in the PDF attachment to this post.