Glossary

Aspiration occurs when food, saliva, liquids or vomit is breathed into the airways leading to the lungs, instead of moving through the swallowing tube that connects the mouth (oesophagus) to the stomach.

Atrophy Muscle atrophy is the wasting or loss of muscle tissue. In SMA this is due to degeneration of nerve cells called motor neurons.

Autosomal recessive is the pattern of inheritance where someone who has the condition inherits two faulty copies of a gene, one from each parent. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The parents are known as ‘Carriers’.

BiPAP (Bi-level Positive Airway Pressure) refers to a breathing support device that delivers 2 levels of air through a mask over the nose or nose and mouth, to support breathing. While breathing in, the BiPAP device delivers a higher pressure to give a bigger breath in followed by dropping the pressure to a lower pressure to help with breathing out.

Bisphosphonates are a group of drugs usually prescribed to slow the loss of bone density, by slowing down cells (osteoclasts) that are responsible for the breakdown of bone.

Body Mass Index (BMI) is the relationship between weight and height used to estimate the amount of body fat according to a mathematical formula: weight, in kg, divided by the square of the person’s height, in metres (BMI = kg/m2).

Bone Mineral Density (BMD) is the amount of mineral (calcium and phosphorous) content per unit volume of bone. It indicates the strength of bones.

Carriers refer to people affected by either an autosomal recessively inherited or X-linked recessively inherited condition who both have a faulty copy and a healthy copy of the affected gene. Carriers usually have no symptoms due to the healthy copy of the gene, but they may pass on the condition to their children.

Cerebrospinal Fluid (CSF) is a clear fluid that surrounds the spinal cord and brain. The fluid acts as a liquid cushion for the spine. It also transports waste and chemical products and antibodies away from the brain and spinal-cord tissue into the bloodstream.

Chromosome is an organised ‘package’ of DNA found in the nucleus of each cell. Humans have 46 chromosomes in each cell. They inherit 23 from their mother and 23 from their father.

Cobb angle is the measurement of the curvature of the spine. It is calculated in degrees by analysing an x-ray image. It helps the doctor decide what treatment is necessary. It is named after John Robert Cobb an America orthopaedic surgeon who was the first to use it.

Contractures are the shortening of the muscle or tendons around a joint leading to it becoming fixed in a particular position or having less than full range of motion at that joint.

CPAP (Continuous Positive Airway Pressure) is a type of ventilation, through a mask, that is driven by a specifically designed non-invasive ventilation machine called a CPAP. It provides a continuous flow of air to help with breathing.

Creatine Kinase (CK) is an enzyme needed to enable muscles to function. After skeletal muscle injury or other illness, CK levels can rise. A CK levels test measures the amount of CK in the blood and can be requested by a clinician to aid diagnosis.

DEXA (Dual energy x-ray absorptiometry) scan is a test that uses low dose x-ray to measure how much calcium and other minerals are present in an area of your bone. A DEXA machine is usually used where you lie on a bed and the scanner passes over your lower spine and hips. The results of a DEXA scan are given as a ‘T score’ which will indicate to the clinician whether or not a person has osteopenia or osteoporosis.

De novo mutation refers to a spontaneous mutation arising in a gene rather than an inherited mutation.

Diabetes Mellitus, commonly called ‘diabetes’, describes a group of conditions in which there are high blood sugar levels over a prolonged time. It occurs where the body does not produce sufficient insulin or where cells respond inadequately to the insulin available. Insulin is a hormone produced in the pancreas, which regulates the amount of glucose in the blood.

DNA Deoxyribonucleic acid is the molecule that contains the genetic instruction manual to build all known organisms. DNA is often compared to a set of blueprints, a recipe, or a code, since it contains instructions needed to construct other components of cells such as protein.

Dysphagia is difficulty or discomfort when swallowing liquids, foods, or saliva. This can sometimes make it difficult to take in enough calories and fluids.

Emergency Healthcare Plan (EHP) is a tool designed to make communication easier in the event of a healthcare emergency. It facilitates shared decision making between clinicians and patients allowing them to discuss and record actions that should be taken by medical professions should any foreseeable emergencies arise. Developing may take several discussions and should include multidisciplinary input.

Enzyme is a protein that speeds up the rate of chemical reaction in a living organism.

Gastroesophageal reflux occurs when the muscle joining the oesophagus (swallowing tube from the mouth) to the stomach either opens on its own, or does not close properly which means that the stomach contents (food/ liquid) rise up into the oesophagus. It may also be called acid reflux or acid regurgitation, because digestive juices which are acidic, rise up with the food, causing a burning sensation.

Gastrointestinal tract is the system of organs which include the mouth, oesophagus, stomach, small intestine, large intestine and rectum. It processes the food we eat to extract and absorb energy, nutrients, water and to extract waste as faeces.

Gastrostomy or Gastric tube or G tube is a surgical opening into the stomach, in this case to insert a flexible feeding tube through the abdominal wall and into the stomach to allow direct delivery of adequate nutrition. Sometimes referred to as a PEG (Percutaneuos endoscopic gastrostomy).

Gene is the basic physical unit of inheritance. Genes are passed from parents to offspring and are made up of DNA which contains the information needed to determine specific characteristics of a person. Some genes act as instructions to ‘code’ for proteins. Every person has two copies of each gene, one inherited from each parent.

Glycopyrrolate comes in the form of an inhaler and is sometimes prescribed to treat excessive saliva production.

Hippotherapy means ‘treatment with the help of the horse’ it is a therapeutic and rehabilitative treatment as a means to improve coordination, balance and strength.

High Blood Pressure or Hypertension is considered to be 140/90mmHG or higher. The first number is systolic pressure is the force at which your heart pumps blood around your body. The second number is diastolic pressure the resistance to the blood flow in the blood vessels. They’re both measured in millimetres of mercury (mmHg).

Hormone is a chemical produced in the body that controls and regulates the activity of specific cells and organs.

Hypoventilation is when someone is not able to take a big enough breath to exchange carbon dioxide for oxygen resulting in low blood levels of oxygen and an increase of carbon dioxide.

Intubation is the placement of a flexible plastic tube into the windpipe (trachea) to act as an airway and a possible route for some drugs.

Intrathecal administration is a way to provide drug delivery via an injection into the spinal canal so that it reaches the cerebrospinal fluid.

Ketoacidosis or diabetic ketoacidosis affects people when their body starts breaking down fat at a rate that is too fast. The liver processes the fat into a fuel called ketones, which causes the blood to become acidic.

Ketones are substances that are produced in the liver when fat cells are broken down (metabolised).

Kyphosis is an outward curvature of the spine which, if excessive, can lead to ‘hunching’ of the back.

Leptin is a hormone that is produced by the adipose tissue (which stores energy in the form of fat, and also cushions and insulates the body) and has a role in regulating appetite. Typically, an increased amount of adipose tissue results in higher concentrations of leptin and a reduction in appetite. However, some people are less sensitive to it and don’t experience this reduction in appetite.

Motor Neurons are located in the spinal cord and the part of the brain that is connected to the spinal cord. Motor neurons transmit signals from the brain and spinal cord that tell the skeletal muscles to contract, which allows the body to move.

Muscle Biopsy is a minor surgical procedure that removes a small sample of muscle tissue for testing in a laboratory. It is usually carried out under local anaesthetic. The sample can be used to aid diagnosis.

Mutation is a permanent change in the DNA sequence of a gene that can be inherited by subsequent generations. Mutations can result from DNA copying mistakes made during cell division.

Nasogastric (NG) intubation is the insertion of a tube through the nose, past the throat and down into the stomach to allow delivery of adequate nutrients (Fat, carbohydrate, protein, vitamin and minerals).

Nasojejunal (NJ) intubation is the insertion of a tube through the nose, down past the throat and stomach down into the small intestine, to allow delivery of adequate nutrients (fat, carbohydrate, protein, vitamin and minerals).

Nebulised bronchodilators are a type of medication that delivered as a mist that is inhaled into the lungs makes breathing easier by relaxing the muscles in the lungs and widening the airways (bronchi).

Non-invasive Ventilation (NIV) uses airway support that is administered through a nose or face mask.

Numbing cream is a type of local anaesthetic used on healthy, unbroken skin to prevent pain before certain procedures such as inserting a needle. It works by temporarily numbing the skin and surrounding area.

Oesophagus is the swallowing tube that connects the mouth with the stomach

Orthotist is a medical doctor who is trained to prescribe, manufacture and manage orthoses.

Orthosis or Orthotic (Orthoses plural) is a manufactured device or aid that is fitted to limbs or the spine to prevent or assist movement. They can be splints, a spinal jacket, a spinal brace, ankle-foot orthoses (AFOs), Knee-foot orthoses (KAFOs).

Osteopenia is when bone mineral density (BMD) is lower than normal density but not low enough to be considered osteoporosis (a medical condition in which the bones become brittle and fragile from loss of tissue). A doctor will determine whether or not someone has osteopenia or osteoporosis by carrying out a DEXA scan.

Oxygen Desaturation means a reduction in blood oxygen levels.

Palliative care is an interdisciplinary approach to specialised medical care that aims to reduce the severity of a disease or slows its progression but does not provide a cure. The goal is to improve quality of life for both the patient and family by providing relief from the symptoms and stress.

PEG endoscopy is a surgical procedure where a tube is passed into a person’s stomach through the abdominal wall. This is sometimes needed when intake by mouth is not adequate because of dysphagia or anaesthetic sedation.

Probiotics are live bacteria and yeasts that beneficially affect health by improving the balance or function of our gut bacteria. They can be found naturally in food or as a supplement (yoghurts, tablets, capsules and sachets).

Scoliosis refers to the spine curving sideways.

Skeletal Maturity or ‘bone age’ refers to the age of a child’s skeletal system, which is different to a child’s chronological age. As a child grows the size and shape of their bones change; skeletal maturity is measured by taking an x-ray of the hand and wrist.

Sleep studies are tests that record the body’s activity during sleep; they can record heart rate, breathing and the oxygen level in your blood.

Survival Motor Neuron 1 (SMN1) gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is concentrated in the spinal cord but found throughout the body. It is needed for the maintenance of specialised nerve cells called motor neurons.

Survival Motor Neuron 2 (SMN2) or ‘backup’ gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is concentrated in the spinal cord but found throughout the body. It is integral for the maintenance of specialised nerve cells called motor neurons. However, several different versions of the SMN protein are produced from the SMN2 gene and only one version is full size and functional enough to maintain the specialised nerve cells.

Spirometry is a test used to assess how well a person’s lungs work by measuring how much air they inhale.

Thoraco-lumbar Sacral Orthosis (TLSOs) is a firm inflexible brace that spans the full back (thoracic, lumbar and sacrum part of the spine). It is used to give the spine structural support

Tracheostomy is surgery to create an opening in the neck that goes into the windpipe so a tube can be inserted to help a person breathe more easily. This can be permanent or temporary.

Transcutaneous Skin Probe uses non-invasive electrochemical sensors that are applied directly to the skin surface, so clinicians can continuously monitor carbon dioxide (CO2) to make sure breathing is adequate.

Vertebrae refers to the 33 bones which form the backbone.

Video Fluoroscopic Swallow Study or Modified Barium Swallow is a real time x-ray that is carried out to look closely at the swallowing process to see if any interventions are required to make eating safe.

X-ray creates an image of the inside of a person’s body using radiation called electromagnetic waves. Various tissues within the body absorb different amounts of radiation resulting in an image where bones look white and soft tissue, such as fat, looks grey. Lungs look black because of the air which absorbs the least radiation.