Terms explained

Words for what is happening, and for the condition itself.

• ALS and MND

  Two names in common use for the same group of conditions, favoured in different countries.

• Apathy

  A reduced drive to start things, which is a brain change rather than not caring.

• Bulbar onset

  Describes ALS/MND that began with changes to speech or swallowing.

• Executive function

  The mental skills used to plan, start, organise and switch between tasks.

• Frontotemporal changes

  Changes in thinking, planning or behaviour that some people with ALS/MND experience alongside movement changes.

• Limb onset

  Describes ALS/MND that began with changes in an arm or a leg.

• Primary lateral sclerosis

  A related condition affecting only the upper motor neurons, with stiffness rather than muscle wasting.

• Prognosis

  What is expected to happen over time, described for groups of people rather than for one person.

• Progressive bulbar palsy

  A form in which speech and swallowing are affected first and most.

• Progressive muscular atrophy

  A related condition affecting only the lower motor neurons, with weakness and wasting rather than stiffness.

• Pseudobulbar affect

  Laughing or crying that comes on suddenly and does not match how you actually feel.

• Respiratory onset

  Describes the less common pattern where breathing changes are the first symptom.

Breathing support, and the words used around it.

• Air hunger

  The particular feeling of not getting enough air, which is a sensation rather than something a breathing test measures.

• Aspiration pneumonia

  A chest infection that follows food, drink or saliva going into the lungs instead of the stomach.

• BiPAP

  Bilevel positive airway pressure

  A way of delivering breathing support that pushes harder when you breathe in and eases off when you breathe out.

• Breath stacking

  Taking several small breaths in without letting them out, to fill the lungs more fully before coughing.

• Carbon dioxide build-up

  Carbon dioxide collecting in the blood because breathing is not clearing it fast enough.

• CPAP

  Continuous positive airway pressure

  One steady pressure that holds the airway open, used mainly for sleep apnoea rather than for weak breathing muscles.

• Diaphragm

  The large sheet of muscle under the lungs that does most of the work of breathing in.

• Hypoventilation

  Breathing that is too shallow or too slow to clear enough carbon dioxide, often first at night.

• Invasive ventilation

  Breathing support delivered through a tube placed into the windpipe, rather than through a mask.

• Lung volume recruitment

  Regularly filling the lungs more fully than ordinary breathing does, to keep the chest supple.

• Mechanical insufflation-exsufflation

  The clinical name for what is usually called cough assist, a machine that pushes air in and then pulls it quickly back out.

• NIV

  Non-invasive ventilation

  Breathing support delivered through a mask rather than through a tube into the windpipe.

• Orthopnoea

  Breathlessness that comes on when you lie flat and eases when you sit up.

• Respiratory failure

  The point at which breathing is no longer doing enough of its work without support, usually because the muscles have weakened rather than because the lungs are damaged.

• Secretions

  The fluid the airways and mouth normally make, which becomes a problem when a weak cough cannot shift it.

• Suctioning

  Using gentle vacuum through a small tube to remove saliva or mucus that cannot be cleared by coughing.

• Tracheostomy

  A small opening made in the front of the neck into the windpipe, usually so a ventilator can connect directly.

Speaking, being understood, and the tools that help.

• AAC

  Augmentative and alternative communication

  Any way of communicating that adds to speech or replaces it, from a written chart to a computer that speaks.

• Anarthria

  Being unable to produce understandable speech, while thoughts and language remain intact.

• Dysarthria

  Speech that is hard to understand because the muscles used for speaking have weakened.

• Eye gaze

  Controlling a computer by looking at it, using a camera that follows where the eyes are pointing.

• Message banking

  Recording whole phrases in your own voice, to be played back exactly as you said them.

• Sialorrhoea

  Saliva collecting or escaping the mouth, usually because swallowing has weakened rather than because more is being made.

• Switch access

  Operating a device with one or two simple buttons, pressed with whatever movement is most reliable.

• Voice banking

  Recording enough of your speech that a synthetic voice can later be built to sound like you.

• Voice cloning

  Building a synthetic voice from a smaller amount of recorded speech than traditional voice banking needs.

Swallowing, feeding routes, and keeping weight up.

• Aspiration

  Food, drink or saliva going into the airway instead of the food pipe.

• Dysphagia

  Difficulty swallowing, which can make eating slower, more tiring or less safe.

• Enteral feeding

  Giving food and fluid straight into the stomach or gut rather than by mouth.

• Gastrostomy

  An opening made through the abdominal wall into the stomach so food, fluid and medicines can be given directly.

• Malnutrition

  Not taking in enough energy or nutrients to meet the body's needs.

• Nasogastric tube

  A thin tube passed through the nose down into the stomach, used as a short-term way of giving food and fluid.

• PEG

  Percutaneous endoscopic gastrostomy

  One way of placing a feeding tube, guided by a camera passed down through the mouth.

• RIG

  Radiologically inserted gastrostomy

  Another way of placing a feeding tube, guided by X-ray rather than by a camera down the throat.

• Texture-modified food

  Food prepared softer, smoother or more moist so it is easier and safer to swallow.

• Thickened fluids

  Drinks made thicker with a powder or gel so they move more slowly and are easier to control while swallowing.

• Unintentional weight loss

  Losing weight without trying to, which teams watch closely in ALS/MND.

Muscles, movement, and what changes in them is called.

• AFO

  Ankle foot orthosis

  A light brace worn inside a shoe to hold the foot at a useful angle while walking.

• Bulbar

  A word for the muscles used in speaking and swallowing, and for changes affecting them.

• Contracture

  A joint that has become stuck in one position because it has not been moved through its full range.

• Fasciculation

  Small visible flickers or ripples under the skin as individual bundles of muscle fibres twitch.

• Foot drop

  Difficulty lifting the front of the foot, so the toes catch when walking.

• Lower motor neuron

  The nerve cells running from the spinal cord out to the muscles, whose loss causes weakness, wasting and twitching.

• Muscle cramp

  A sudden, painful tightening of a muscle that holds for a while and then releases.

• Muscle wasting

  Muscle losing bulk because the nerves that supply it are no longer signalling it to work.

• Pressure injury

  Skin damage caused by staying in one position too long, most often over a bony area.

• Spasticity

  Muscles that are stiff and resist being moved, sometimes with sudden tightening.

• Upper motor neuron

  The nerve cells running from the brain down the spinal cord. When they are affected, muscles become stiff and reflexes become exaggerated.

What is measured, how, and what the numbers are for.

• ALSFRS-R

  ALS Functional Rating Scale, Revised

  A questionnaire scoring how much help twelve everyday activities need, used to track change over time.

• Biomarker

  Something measurable in the body that stands in for what is happening to a condition.

• Capnography

  Measuring carbon dioxide levels, through the skin or in breathed-out air, rather than only measuring oxygen.

• Cognitive screening

  A short set of tasks and questions checking planning, language and behaviour, designed so that weak speech or hands affect the result as little as possible.

• El Escorial criteria

  An older set of rules for classifying how certain an ALS diagnosis is, written mainly for research.

• EMG

  Electromyography

  A test recording the electrical activity of muscles, using a fine needle placed into them.

• FEES

  Fibreoptic endoscopic evaluation of swallowing

  A swallowing assessment done with a thin camera through the nose, without X-rays.

• FVC

  Forced vital capacity

  A breathing test measuring how much air you can blow out after taking the deepest breath you can.

• Gold Coast criteria

  A newer and simpler set of diagnostic criteria, intended to reach a clear answer sooner.

• Lumbar puncture

  Taking a small sample of the fluid around the spinal cord using a needle in the lower back.

• Nerve conduction study

  A test measuring how fast and how strongly signals travel along nerves, using small electrical pulses on the skin.

• Neurofilament

  A protein released when nerve cells are damaged, measurable in spinal fluid and blood, and used mainly in research.

• Overnight oximetry

  A simple overnight recording of oxygen levels from a probe worn on a finger.

• Peak cough flow

  A measure of how fast air moves when you cough, used to judge whether a cough is still strong enough to clear the chest.

• Sleep study

  An overnight recording of breathing, oxygen and sleep, done to see what happens when you are not awake to compensate.

• SNIP

  Sniff nasal inspiratory pressure

  A breathing test done by sniffing sharply through one nostril, useful when a mouthpiece is hard to seal.

• SVC

  Slow vital capacity

  The same idea as FVC, but breathing out gently rather than forcing it.

• Videofluoroscopy

  A moving X-ray of swallowing, taken while you eat and drink, to see exactly where the difficulty is.

How treatments are tested, and how to read the results.

• Clinical trial

  A study testing whether a treatment works and is safe enough, in people who agree to take part.

• Compassionate use

  Access to an unapproved treatment for one person, arranged case by case.

• Disease-modifying treatment

  A treatment aimed at changing the course of the condition itself, rather than easing a symptom.

• Double-blind

  Neither the participants nor the researchers know who is receiving the real treatment until the study ends.

• Eligibility criteria

  The rules setting out who can and cannot join a particular study.

• Endpoint

  The specific thing a trial measures to decide whether the treatment worked.

• Expanded access

  A route to a treatment that is still being studied, for people who cannot join a trial.

• Informed consent

  Agreeing to take part after being told what is involved, in a way you can withdraw at any time.

• Natural history study

  A study that follows people over time without giving any treatment, to record how a condition usually unfolds.

• Off-label

  Prescribing an approved medicine for a purpose it was not specifically approved for.

• Open-label

  A study in which everyone knows who is receiving the treatment.

• Placebo

  A treatment with no active ingredient, given so the real one can be compared against it.

• Randomised

  Deciding by chance which participants get which treatment, so the groups are comparable.

• Registry

  An organised record of people with a condition who have agreed to be contacted or counted.

Genes, testing, and what a result does and does not mean.

• Antisense oligonucleotide

  A treatment approach that works by reducing how much of a particular protein the body makes.

• C9orf72

  The most common genetic cause of ALS/MND, and also of frontotemporal changes.

• Familial ALS/MND

  ALS/MND where more than one person in a family is affected, or where a known genetic cause is found.

• FUS

  Fused in sarcoma

  A gene in which changes can cause ALS/MND, sometimes with an earlier age of onset.

• Genetic testing

  Looking at particular genes in a blood or saliva sample to see whether a known change is present.

• Penetrance

  How likely it is that someone carrying a genetic change will actually develop the condition.

• Predictive testing

  Testing a relative who has no symptoms, to see whether they carry a genetic change found in the family.

• SOD1

  Superoxide dismutase 1

  A gene in which certain changes can cause ALS/MND, and the first one found to do so.

• Sporadic ALS/MND

  ALS/MND occurring in someone with no family history of it, which is how most diagnoses are described.

• TARDBP

  TAR DNA-binding protein

  A gene linked to ALS/MND, whose protein is found clumped in nerve cells in most cases of the condition.

• TDP-43

  TAR DNA-binding protein 43

  A protein found clumped abnormally inside nerve cells in most ALS/MND, whatever the underlying cause.

• Variant of uncertain significance

  A genetic difference that has been found but is not known to cause anything.

How care, planning and funding are organised.

• Advance care planning

  Thinking through and recording what you would and would not want, in case you cannot say so at the time.

• Advance directive

  A written record of treatments you would refuse, which can be legally binding.

• Assistive technology

  An umbrella phrase for equipment and software that helps somebody do something they otherwise could not.

• Bereavement support

  Support for family and friends after a death, usually available for a long period afterwards.

• Do not resuscitate

  A recorded decision that attempts to restart the heart should not be made.

• Enduring guardian

  Someone appointed to make health and lifestyle decisions for you if you cannot, under the law of some places.

• Environmental control

  Operating things around the home, such as lights, doors, a bed or a television, using whatever movement is reliable.

• Home modification

  Changes to a home that make it work with the equipment and help someone needs.

• Hospice

  A service, and often a place, providing specialist care towards the end of life, and frequently much else besides.

• Living will

  An older, everyday name for a written statement of what treatment you would refuse.

• Long-term care

  Ongoing care arranged over months or years, at home or in a residential setting.

• Multidisciplinary care

  Several different professions looking after you together, ideally seeing you in one visit.

• Palliative care

  Care focused on comfort, symptoms and quality of life, which can run alongside other treatment from early on.

• Power of attorney

  A legal document naming someone to make decisions for you if you cannot make them yourself.

• Respite

  Arranged care that gives the person doing most of the caring a break.

• Substitute decision-maker

  The person who makes decisions on your behalf when you cannot make them yourself.

• Voluntary assisted dying

  A legal process, available only in some places, by which a person may be helped to end their life.