What is ALS? The motor neuron disease Eric Dane has been diagnosed with

You may already be familiar with ALS, especially if you took part in the viral ice bucket challenge to raise awareness of the condition back in 2014. Now the disease, which currently has no cure, is back in the spotlight as Grey’s Anatomy actor Eric Dane has announced that he’s been diagnosed with the condition.

But what is ALS? The Telegraph looks at the latest research and talks to neurology expert Prof Andrea Malaspina at University College London about the disorder’s main symptoms, treatments and if ALS is different to other motor neurone diseases.

• What is ALS?
• What are the symptoms?
• Treatments
• What is the life expectancy and is there a cure?
• Is ALS the same as MND?

What is ALS?

Amyotrophic lateral sclerosis, or ALS, is a motor neurone disease (MND), with around 5,000 people in the UK thought to be living with the disease. The neurological disease, also called Lou Gehrig’s disease after the baseball player who was diagnosed with it, affects two types of motor neurones in your body. Based in your central nervous system, motor neurones and nerve cells are vital for movement – sending signals from the brain and spinal cord to your muscles.

“ALS is a neurodegenerative and neuromuscular disorder,” Prof Malaspina explains. “The disease starts the process of alteration in the central nervous system, particularly the motor system, resulting in the loss of motor cells, which are essentially very important as they send messages to the muscles and allows for coordinated movement.”

He adds that ALS is a form of MND that affects both the motor cells in the outside layer of the brain (cerebral cortex) and the spinal cord, which impacts the brain stem, meaning it can affect both muscle function and speech.

Studies have shown that in 10 per cent of cases the cause of ALS can be genetic, with over 40 genes identified to be the causes of the disease – including a study on twins in the UK. However, even if you have the genetic mutation it doesn’t mean you’ll develop the disorder.

The resulting 90 per cent of cases are defined as sporadic, or influenced by environmental factors, with studies identifying them as factors such as intense physical exercise, toxins such as smoking and abnormalities in the immune system.

“There’s an increasing interest in the use of medication that modulates the immune response, like in any area of medicine, we think that immune response is crucial, a kind of gatekeeping of the progression of the disease,” says Prof Malaspina.

What are the symptoms of ALS?

Prof Malaspina, who is also the clinical academic lead at UCL’s Motor Neuron Disease Centre, explains that the first signs of ALS are normally muscle weakness or pain, twitching or speech impairments. As the disorder affects the muscles it normally starts in the hands and feet and can spread to the arms and legs.

“Loss of muscle function can affect the ability to walk and motor skills – patients may struggle to tie their laces, cut food, and bring food to their mouth. Also, when motor cells are affected around the brain stem other problems arise, like the ability to swallow and to communicate. Individuals around them could notice that there is a slurred quality of speech.”

He adds that there could also be a form of cognitive impairment: “This is mostly related to their ability to be social and lead through our emotions. The manifestation of this type of dementia could also be present very early on. So it’s not only motor cells involved, but it’s something that relates to cognition and behaviour.”

As the disease progresses, and the muscles start to get weaker some may find it hard to swallow food, while weight loss and bowel movements could change. Respiratory failure and inability to eat can be one of the final symptoms of the disease.

“We breathe through the activation of muscles, they allow us to inhale and exhale – so when this neuromuscular respiratory apparatus becomes deficient there’s reduced breathing. Respiratory failure is one of the main features towards the end of the disease.”

Treatments for ALS

In the UK there’s currently only one form of medication for treating ALS: the drug called riluzole helps to slow down the symptoms of the disorder. Other medicines can help to limit symptoms such as muscle spasms or stiffness.

Prof Malaspina adds that there have been interesting research and clinical trials, over the last few years, for two specific gene mutations, with the most successful being for a gene present in some patients, called SOD1.

“A lot is happening in the development of several different therapeutic approaches, the most successful so far has been a certain genetic mutation that causes ALS in a gene called SOD1. Those who have this genetic mutation are obviously no more than 2 per cent of patients, but where we can use this medication, called tofersen, the progression of the disease has been significant.”

The drug is currently FDA-approved in the United States, and is awaiting approval in the UK, with Nice (National Institute for Health and Care Excellence). Other treatments to help manage symptoms of ALS are physiotherapy to help patients with movement, dietary advice for those who are struggling to eat and speech therapy.

What is ALS life expectancy and is there a cure?

The life expectancy of ALS is varied, with the late Prof Stephen Hawking, the most famous case of the disease, living with the disorder for 55 years before passing away at 76. However, Prof Malaspina explains that despite some cases progressing faster or slower than normal the “vast majority of patients are in the middle, so general life expectancy will be between three and five years.”

“Some individuals can develop ALS and have a very steady pace of disease progression,” says Prof Malaspina. “Others may have similar appearances clinically but have a much slower progression, perhaps with a survivor that will get to a decade. But these represent a small percentage.”

There’s currently no cure for ALS, but with many clinical trials and research ongoing, experts hope to understand more about the disease and hopefully find a cure.

Is ALS the same as MND?

ALS is a type of motor neurone disease (MND), and comes under this umbrella term in the UK (in the US all MND types are known as ALS) with three other types of MND including progressive bulbar palsy (PBP), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS).

Prof Malaspina explains that there are two types of motor cells, and each MND type is different: “One sits in the brain cortex, and the second type sits a bit lower down in the spinal cord, connecting to the brain stem.”

“PLS only affects the upper motor neurone, whereas ALS is both upper and lower motor neurones. With PBP it affects the motor cells in the brainstem, or the bulbar region, so a patient would be affected in terms of voice and swallowing. And then you have a fourth category, which is a PMA, or progressive muscle atrophy, which is the result of involvement only of the lower motor neurones.”