Baseline

the starting point to compare other tests

BiPAP

bi – two way; PAP – positive air pressure. Used to maintain lung expansion

Body Mass Index

relationship between weight and height according to formula weight, in kg, divided by the square of length, in metres

Cardiomyopathy

deterioration of heart muscle function – also known as “heart muscle disease”

Cobb angle

measurement of scoliosis angle from spinal X-ray

Contractures

tightness round a joint leading to its becoming fixed in a particular position or having less than full range of motion at that joint

Cushingoid features

term used to describe the round or “moonlike” face that people on steroids may develop. (This may be prominent even if weight gain overall is not an issue and can be hard to control without a change in steroid or in the dosing schedule)

Depolarising muscle relaxants

drugs that decrease the muscle tone by acting on muscle receptors involved in depolarisation

DEXA

see abbreviations

Dysphagia

swallowing problems

Dystrophinopathy

the term used to cover all the different conditions caused by faults in the dystrophin gene (Duchenne muscular dystrophy, Becker muscular dystrophy, manifesting carriers of one of these conditions and rare patients who have only heart disease)

Eccentric Exercises

exercises such as going downstairs or trampolining that involve lengthening rather than contraction of the muscle

Electrocardiogram (ECG)

methods used to assess the electrical activity of the cardiac muscle. The ECG involves stickers placed on the chest to record heart signals.

Echocardiogram (“echo”)

method used to assess the structure of the heart. The Echo is also known as a “cardiac ultrasound” and gives pictures of the beating heart

Electromyography

a test that measures electrical signals from a muscle and can give a clue to whether a nerve or muscle disorder is present

Forced Vital Capacity

the maximum volume of air that can be exhaled after maximum inhalation

Gastritis/gastroesophageal reflux

occurs when the muscle joining the oesophagus (swallowing tube from the mouth) to the stomach opens on its own, or does not close properly and stomach contents rise up into the oesophagus. Also called acid reflux or acid regurgitation, because digestive juices, called acids, rise up with the food

Gastrostomy

surgical opening into the stomach, in this case to insert a feeding tube. Sometimes referred to as a PEG

Germline mosaicism

condition in which the cells in the gonads that will develop into germ cells (ova and spermatozoa) are a mixture of two genetically different cell types

Glucose intolerance

defines a pre-diabetic state associated with insulin resistance

Gowers’ manoeuvre/sign

a sign of weakness in the muscles round the hips and upper part of the lower legs. It describes the way that someone with weakness in these muscles gets up of the floor, needing to turn onto their front, keep their legs wide apart and using a hand on their thigh to rise. It is commonly seen in DMD but other conditions causing weakness in the same muscle groups also cause a Gowers’ manoeuvre

Holter

method used for continuous ambulatory 24 hr ECG recording

Hypercapnia

too much carbon dioxide in the blood

Hypertension

high blood pressure

Hypoventilation

reduced breathing efficiency of ventilatory capacity

Hypoxemia

decreased oxygen levels in the blood

Immunoblotting

a way to measure the amount of dystrophin in the muscle

Immunocytochemistry

a way to look at the muscle under the microscope and see how much dystrophin is present

Knee adductors

the muscles that keep the knees together

Kyphoscoliosis

abnormal curvature of the spine with both sideward (scoliosis) and hunched forward or backward (kyphosis)

Malignant Hyperthermia-like reaction

a response to anaesthesia that causes a high temperature and can be life-threatening

Motor Function Scales

tests which are used to assess activities of motor performance in a standardised way

Myoglobinuria

presence of myoglobin in the urine as a sign of breakdown of muscle (urine looks coca-cola coloured because it contains breakdown products of muscle proteins)

Osteopenia/osteoporosis

decrease in bone mineral density

Oximetry

the measurement of oxygen in the blood stream using a machine to detect it through the skin

Palpitations

awareness of abnormal heartbeats

Pelvic obliquity

describes a condition in which the pelvis is uneven, such as being rotated downward on one side

Prophylaxis

prevention

Rhabdomyolysis

breakdown of muscle

Scoliosis

curvature of the spine

Tanner stage

defines pubertal development based on external primary and secondary sex characteristics, such as the size of the breasts, genitalia and the development of pubic hair

Tenotomy

surgical cutting of a tendon

Thrombolitic events

formation of a clot (thrombus) in a blood vessel that breaks loose and is carried by the blood stream to plug another vessel

Tinea

a fungal skin infection

Tracheostomy

surgical procedure on the neck to open a direct airway through an incision in the trachea (the windpipe)

Varus

inward rotation of the foot due to an imbalance of the foot muscles

Volume recruitment

increasing the amount of air taken in by the lungs using a device to help inflate the lungs. Such devices include Ambu bags and inexsufflators. Ventilators can also be used to increase volume

Videofluoroscopic study

assessment tool to view and determine the nature and extent of an oropharyngeal swallowing problem. A video X-ray is taken as the child swallows the food

Information based on consensus statement (published in January 2010)