Motor Neurone Disease (MND)...Amyotrophic Lateral Sclerosis (ALS)...Lou Gehrig's Disease...the illness made famous by the late and brilliant, Professor Stephen Hawking, has many names. For the sake of this piece, we will refer to it as MND. 
- Technically, Motor Neurone Disease is an umbrella term encompassing a group of degenerative conditions affecting the motor neurones. However, when MND is mentioned - it usually is used interchangeably with the most common type, ALS. 

Most people are familiar with MND, a disease which causes progressive weakness. It usually appears in those older than sixty; but of course, it can appear at any age. Only 5 - 10% of MND patients have a family history of the disease (suggesting a genetic link). The vast majority of cases are sporadic. 

MND affects both upper and lower motor neurons (if you don't know what we're talking about - it's best to read our 'General Overview' and come back!). This evokes an array of mixed neurological signs, making a diagnosis quite difficult. There is no test for MND that is 100% accurate, making a diagnosis is clinical with supporting evidence from tests. 

Concerned individuals often come to see a neurologist when they experience persistent fasciculations (twitching muscles). Fasiculations are often seen in MND, but fasciculations alone are often completely benign. 
The neurologist will do a full examination; checking the tone and power of the different muscle groups, including checking the reflexes. They will likely perform a test at the beside (Electromyography +/- Nerve Conduction Studies) whereby small needles with an electrical source will stimulate muscular contraction which can be measured. This test can aid a diagnosis. They may also consider ordering an MRI scan of your brain and spinal cord.

MND can cause progressive weakness in any voluntary muscle group. The degeneration commonly involves the bulbar region of the brain - the medulla of the brain stem. The medulla houses the nerves that control swallowing and movement of the tongue (fasciculations and wasting of the tongue is often seen).  

The end-stage of MND usually involves weakness of the muscles that control breathing. Over time, the patient will struggle to expand their ribcage without high levels of fatigue. During this phase, the patient's respiration is often supported in hospital with input from palliative care services to make the person (and their family) as comfortable as possible during this difficult time. 

Unfortunately, there is no treatment to prevent the progression of neuron degeneration. However, a medication called 'Riluzole' can slow the rate of progression and extend survival by 6 - 18 months. Other medications are mostly supportive, to minimise the symptoms one may experience.