A slow breakdown

DECCAN CHRONICLE. | SWATI SHARMA
Published Dec 30, 2019, 12:13 am IST
Updated Dec 30, 2019, 12:13 am IST
Motor-neurone disease, which can impede basic bodily functions including walking, breathing and swallowing, has no cure.
Stephen Hawking.
 Stephen Hawking.

In a recent interview with the BBC, Rugby star Rob Burrow broke down as he revealed that he was diagnosed with motor-neurone disease (MND). “It was a bit of a shock. I had not had any sort of prep for being told that you (sic) have something where there’s no cure,” said the 37-year-old.

A life-changing condition, MND affects everybody differently, often causing increasing loss of mobility and difficulty in basic bodily functions, such as walking, speaking, swallowing and breathing. First described by Jean-MartinCharcot in the nineteenth century, the most common MND is amyotrophic lateral sclerosis (ALS). Some well-known global figures affected by ALS include the renowned, late English physicist Stephen Hawking, who lived with the disease for many decades until his death in March 2018. Guitar virtuoso Jason Becker has also been living with ALS for several years.

 

ALS and MND are also known as Lou Gehrig’s disease, named after the famous New York Yankee Base Ball player who was affected with the disorder.

Relentlessly progressive, these are neuro degenerative disorders with no cure, causing muscle weakness, disability and eventually death. It can appear at any age, but symptoms usually appear after the age of 40 years, affecting more men than women.

Taking the expert opinion
Dr Jayasree, consultant neurologist, KIMS Hospitals, described MND as a neurodegenerative condition that affects the brain and spinal cord. “Symptoms include limb and torso muscle weakness, difficulty in swallowing and speaking, and respiratory muscle weaknesses that lead to respiratory failure and death.”

While reiterating the incurability of the disease, Dr Shyam Jaiswal, consultant neurologist, CARE Hospitals, points out how ethical debates around assisted suicide —mostly a very difficult topic for patients and their relatives — as the course of this disease has put a spotlight on it. However, he also points out that symptoms of the disease can be controlled, thus ensuring optimum quality of life (QOL). In other words, while MND is still incurable, it isn’t untreatable and symptoms can be managed.

That being said, Riluzole is currently the only drug licensed for the treatment of individuals with ALS. The medicine has been shown to slow down the progression of the disease.

“When prescribing medicines, however, it’s important to consider if the patient has dysphagia and is unable to swallow,” cautions Dr Shyam, adding, “Speech and language therapists (SALTs) will be able to provide advice on the consistency of food and drinks, as well as the appropriate body positioning during meals. Dietitians can help determine calorific intake and optimise nutritional supplements.”

Consider experimental therapy
A number of agents have been under investigation for ALS treatment, which include antisense oligonucleotide therapy for genetic ALS, AMX0035, Mastinib, Memantine, Mexiletine, Arimoclomol, Retigabine, Tamoxifen and Toclizumab.

However, Dr Jayasree cautions that these drugs be used only in the context of a clinical trial or under discretion of an experienced clinician

Symptoms associated with the disorder
Muscle weakness, muscle twitching, cramps and stiffness are all commonly experienced by people with MND
Upper extremity onset may start with the hand weakness, sometimes progressing to the shoulder girdle muscles
Lower extremity onset begins with foot drop
20% patients have bulbar onset,which causes difficulty in swallowing and speaking
Less common patterns include respiratory muscle weakness (1-3%), generalised weakness (1-9%) and assail onset with head drop
Other symptoms include weight loss, muscle thinning and twitching
Hand weakness causes difficulty in using small objects (buttons and coins) as also in writing. Arm weakness alone can lead to difficulty in bathing, dressing, grooming and eating
Foot weakness results in tripping and falls. Difficulty in arising from chairs and climbing stairs
Approximately 15% of patients can have cognitive impairment
Some patients complain of constipation, urinary urgency and excessive sweating
Sensory symptoms like tingling, pins and needles sensation may occur in 20-30%cases
Pain owing to various causes has been described in 15-85 patients
Extra pyramidal features like mask such as facies, tremor, bradykinesiaand postural instability can be seen in some patients

Available treatments
Riluzole is the only drug known to have an impact on ALS. It acts by reducing glutamate excitotoxicity, inhibiting glutamic acid release and blocking N-methyl-D-aspartate receptor (NMDA) mediated responses
Riluzole, according to 2009 American Academy of Neurology practice parameter, is safe and effective for slowing ALS progression
Edaravone is another drug found to show functional deterioration in some patients with ALS
Edaravone is recommended as an adjunct to Riluzole for all patients with ALS. It was approved by US FDA in May 2017

...




ADVERTISEMENT
ADVERTISEMENT
ADVERTISEMENT
ADVERTISEMENT
ADVERTISEMENT