| Abdomen |
Stomach |
| Arterial Blood Gases |
Blood taken from an artery to measure Oxygen Saturation |
| Ankle Foot Orthosis (AFO) |
Plastic Brace to support/minimise contractures and or aid standing |
| Ambulant |
Able to walk |
| Amniotic Fluid |
The fluid surrounding a foetus in the womb |
| Amniocentesis |
rocess of taking sample of Amniotic fluid |
| Anterior |
Front or forward |
| Anterior Horn |
The front part of the Spinal Cord |
| Anterior Horn Cell |
The Cells that make up the Anterior Horn |
| Apnea |
Short term cessation of breathing |
| Aspiration |
Food or fluid that is breathed into the airway/lungs |
| Atelectasis |
Collapse of the lung |
| Atrophy |
Shrinkage/Loss/Wasting |
| Autosomal |
An abnormal gene that can affect either sex |
| BI PAP |
A machine which supplies respiratory support using two way positive air pressure (ie breathing in & out) |
| Bronchial Drainage |
A method of chest percussion and positioning to help clear the lungs of secretions |
| Cannula |
A tube inserted into the vein to supply medicine/saline directly into the body/ A tube used to supply oxygen near the nose |
| Carbon Dioxide |
Makes up .04% of air/a waste product expelled by exhalation |
| Carrier |
A person who has both a healthy & faulty copy of a pair of genes. A carrier is not necessarily affected, but may pass a condition to their children |
| Carrier Testing |
A test to determine if people are carriers |
| Cell |
The base structure of all life |
| Cell Nucleus |
The core of a cell containing chromosomes |
| Centromere |
The centre of chromosomes |
| Chest percussion |
A method of rhythmic slapping (with a cupped hand) to loosen secretions |
| Chest Physiotherapy |
As above |
| Chorionic Tissue |
Tissue from developing placenta |
| Chromosome |
Structures made up of DNA wrapped with protein. Each cell in the body contains 23 pairs of chromosomes. Each chromosome contains over 1000 genes. |
| Concave |
Sunken inwards |
| Contracture |
Tightness of a muscle reducing joint mobility |
| Convex |
Sticking out |
| CPAP |
A machine that provides Continuous Positive Air Pressure. A steady flow of air through the body |
| Chorionic Villus Sampling (CVS) |
Procedure to take a sample of tissue from the placenta taken by needle at about 11 weeks, used to test for genetic conditions. (including SMA) |
| Deletion |
Genetic material missing from a chromosome or gene |
| Dyspnea |
Difficulty breathing |
| Distal |
Affecting the extremities ie legs, arms |
| Dysarthria |
Difficulty speaking |
| Dysphagia |
Difficulty swallowing |
| Dyspraxia |
A condition causing clumsiness |
| DNA (deoxyribonucleic acid) |
The molecule that codes the genes responsible for the structure and function of living organisms. DNA transfers genetic information through the generations |
| Enzyme |
A protein that triggers chemical reactions |
| Fasciculations |
Fine tremors of muscles |
| Fine Motor Skills |
The use of muscles for small movement ie-writing etc |
| Frog legged |
Legs flopped outwards common in children with SMA |
| Forced Vital Capacity (FVC) |
Measurements of a deep breath, exhaled |
| Gastroesophageal Reflux |
Food/liquid swallowed moves back up to the oesophagus. Can cause choking/increased secretions. |
| Gene |
A portion of DNA that has the instructions for forming a specific product ie a protein. Genes often come in pairs one inherited from the mother and one from the father |
| Gene Therapy |
The treatment of a genetic disease by repairing or replacing a faulty gene |
| Genetic Counselling |
Information provided by a specialist to people with concerns about passing on a genetic condition |
| Genetic Markers |
Indicators in DNA which can be used to track a genetic condition |
| Genetics |
The study of inheritance |
| Gastrostomy Tube (G Tube) |
Feeding tube surgically implanted into the stomach |
| Hypercapnia |
Increased blood carbon dioxide levels |
| Hypotonia |
Low muscle tone, floppy |
| Hypoxia |
Decreased blood oxygen levels |
| Intubate |
Tube inserted into the mouth/nose for artificial breathing |
| Intermittent Positive Pressure Breathing (IPPB) |
Machine providing deep breaths to expand the lungs |
| Kugelberg-Welander Disease |
Type III SMA |
| Kyphosis |
Outward curvature of the spine |
| Laxative |
Medicine to help stimulate bowel movements |
| Lordosis |
Inward curvature of the spine |
| Lumbar |
Lower spine |
| Motor Neurons |
Nerves that control movement |
| Muscle Biopsy |
Removal of a small amount of muscle tissue for examination |
| Mutation |
When a gene is changed or altered in some way |
| Myopathy |
Disorder of the muscle |
| Neuropathy |
Disorder of the nerves |
| Nasogastric (NG) tube |
Feeding tube fed through the nose to the stomach |
| Nucleus |
The structure at the centre of a cell |
| Orthosis |
Manufactured support for joints or muscles (usually plastic) |
| Osmosis |
Movement of a weak solution to a strong solution through a semi permeable membrane |
| Osmotic Medicine |
Medicine that works though osmosis (ie osmotic laxatives) |
| Pectus Excavatum |
When the breastbone is caved in |
| Physiotherapy |
Physical exercises to help reduce the risk of contractures and aid appropriate positioning |
| Physiotherapist |
Therapist skilled in methods of physiotherapy |
| Positive End Expiration Pressure (PEEP) |
Pressure given at the end of a mechanical breath |
| Pneumonia |
Infection caused by fluid/bacteria in the lungs |
| Prone |
On stomach |
| Protein |
Compounds that are made up of amino acids/essential in metabolism |
| Proximal |
Affecting the large muscles closest to the central line of the body |
| Pulse Oxymetre |
Machine that measures pulse rate & oxygen levels in the blood |
| Recessive |
Inherited from both parents |
| Reflexes |
Involuntary movement caused by response to stimulus |
| Respirator |
Machine which provides artificial breathing |
| Sacral |
Lower spine |
| Scoliosis |
Curvature of the spine |
| Spinal |
In relation to the spine |
| Suctioning |
Mechanical removal of mucus from the airway |
| Supine |
On back |
| Thoracic spine |
Upper part of the spine |
| Trachea |
Wind Pipe |
| Tracheostomy |
Operation to allow breathing via the windpipe (through a tube) rather than the mouth |
| Tremor |
Shaking of muscles |
| Ventilator |
Machine which provides artificial breathing |
| Vertebra |
Spine |
| Vertebrae |
Individual bones that make up the spine |
| Vital Capacity |
The maximum volume of air that one can inhale and exhale |
| Werdnig Hoffman Disease |
Type I SMA |
