Amyotrophic lateral sclerosis: a clinical review

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• What does it mean that ALS/MND is diagnosed by ruling other things out?

  ✓Supports this

  “Because the diagnosis is a clinical judgement assembled from several pieces, it can take a long time to reach.”

  Reports that the delay between symptoms starting and a diagnosis being made is still often up to a year, and gives the lack of usable clinical diagnostic criteria as one reason for it.

  There is a high need for clinical diagnostic criteria of ALS and related subtypes of motor neuron disease, to reduce the diagnostic delay, which is unfortunately still often up to a year after disease onset.

  Introduction

• What does it mean that ALS/MND is diagnosed by ruling other things out?

  ✓Supports this

  “There is no single test that confirms ALS/MND. It is a clinical diagnosis made when no other explanation fits.”

  States that ALS is diagnosed clinically, from signs of upper and lower motor neurone damage in someone with progressive weakness for whom no other explanation can be found. It adds that clinicians mostly do not use the formal research criteria, because those criteria track how far the disease has spread rather than how certain the diagnosis is.

  The diagnosis of ALS remains a clinical diagnosis and is based on the presence of both upper motor neuron (UMN) and lower motor neuron (LMN) signs, in patients with progressive muscle weakness in whom no alternative explanation can be found.

  Introduction

• What does it mean that ALS/MND is diagnosed by ruling other things out?

  ✓Supports this

  “A small number of the conditions that can be mistaken for ALS/MND can be treated, which is why they are ruled out.”

  Puts the chance of a mistaken ALS diagnosis at about 7 to 8 per cent and says these look-alike conditions should be ruled out because a delay in treating them can affect how someone does. The conditions it lists include several that are treatable, such as multifocal motor neuropathy, chronic inflammatory demyelinating polyneuropathy and myasthenia gravis.

  The ALS mimicking syndromes should be ruled out as delay in treatment may have an unfavourable effect on outcome.

  Important differential diagnoses

• Why are prognosis figures averages rather than predictions?

  ✓Supports this

  “Multidisciplinary specialist care, including respiratory support and symptom management, is the cornerstone of ALS/MND treatment and has a positive effect on how people do and on their satisfaction with care.”

  Says the cornerstone of ALS management remains multidisciplinary care, including nutritional and respiratory support and symptom management, and that multidisciplinary care has a positive effect on patient satisfaction and outcome. That outcome sentence cites another paper rather than reporting its own measurement, so it is summarised here rather than quoted.

• Why are prognosis figures averages rather than predictions?

  ✓Supports this

  “ALS/MND varies widely from person to person in when it starts, where it starts and how fast it progresses.”

  States that age at onset, the part of the body where symptoms start and the rate of progression all vary greatly between people with ALS.

  There is a high degree of variability in the age at onset, the site of onset and the disease progression rate of ALS.

  Introduction

• Why are prognosis figures averages rather than predictions?

  ✓Supports this

  “Non-invasive ventilation is the preferred life-prolonging treatment for respiratory insufficiency in ALS/MND.”

  Calls non-invasive ventilation the preferred life-prolonging treatment for respiratory insufficiency in ALS, so it is scoped to the point at which breathing is impaired. The paper does not mention tracheostomy or invasive ventilation anywhere, so it cannot rank one breathing treatment against another and no such comparison is made here.

  Non-invasive ventilation is the preferred life-prolonging treatment for respiratory insufficiency.

  Treatment/management

• Why are prognosis figures averages rather than predictions?

  ✓Supports this

  “There is no cure or effective treatment for ALS/MND. More than 40 randomised trials have been negative, and the one drug approved in most European countries has only a small effect on survival.”

  States there is still no cure or effective treatment for ALS, that more than 40 randomised controlled trials failed to show a beneficial effect on progression or survival, and that riluzole, the only approved disease-modifying drug in most European countries, has a small but significant effect on survival.

  To this day there is no cure or effective treatment for ALS and the cornerstone of treatment remains multidisciplinary care, including nutritional and respiratory support and symptom management.

  Abstract

• Why are prognosis figures averages rather than predictions?

  ✓Supports this

  “Dietary changes help maintain nutrition, and a gastrostomy (feeding tube) is an option when calorie intake is not enough or when swallowing has become unsafe.”

  Gives this as the indication for nutrition support: dietary changes can improve nutrition, and a gastrostomy tube is an option if calorie intake is insufficient or swallowing becomes hazardous. It makes no claim that nutrition support changes survival or the course of the disease, which is why that is not said here.

  Dietary changes can help to improve nutrition and a gastrostomy tube is an option if the caloric intake is insufficient or when swallowing becomes hazardous.

  Treatment/management

• Why are prognosis figures averages rather than predictions?

  ✓Supports this

  “Where symptoms started and how fast they have changed help a team judge the likely picture, but they do not predict what will happen to one person.”

  Says life expectancy in ALS is extremely variable, while listing features present at first assessment that are associated with shorter survival: bulbar onset, fast decline, weight loss, older age and low lung function. It adds that the first personalised prediction models now exist, so the limit is on precision rather than on judging the picture at all.

  Life expectancy in ALS is extremely variable.

  Prediction of prognosis