Glossary

Aphasia

Difficulty understanding/expressing language.

ARSA or ASA

Arylsulfatase-A.

Aspiration

Food, drink or saliva from the stomach or mouth entering the lungs.

Ataxia

The loss of full control of bodily movements, affecting co-ordination, balance and speech.

BBB

Blood Brain Barrier which separates the circulating blood from the brain and the CNS.

BMT

Bone Marrow Transplant – replacement of ineffective bone marrow with healthy bone marrow from a donor.

CNS

Central Nervous System – the brain and the spinal cord.

CSF

erebrospinal Fluid – fluid surrounding the CNS.

Dysphagia

Difficulty or discomfort in swallowing, as a symptom of disease.

Dystonia

State of abnormal muscle tone resulting in muscular spasm and abnormal posture, typically due to neurological disease.

ERT

Enzyme Replacement Therapy – replacement of a missing or deficient enzyme with a man-made version.

GA

General Anaesthesia.

Gene

A unit of heredity transferred from parent to offspring held to determine some characteristics.

Gene Therapy

Autologous gene therapy is designed to use a person’s own blood stem cells and insert into those cells a working copy of the missing or faulty gene. By giving these gene-corrected cells to the patient, the aim to permanently correct genetic disorders with a single treatment.

Hip subluxation

A condition in which the hip joint is partially, but not fully, dislocated.

Leukodystrophy

One of a group of disorders characterised by degeneration of the white matter in the brain.

LSD

Lysosomal Storage Diseases – a large group of disorders caused by a deficiency of specific enzymes responsible for the degradation of substances present in lysosomes.

MLD

Metachromatic Leukodystrophy.

MDT

Multi-Disciplinary Team.

NI

Neuroinflammation – inflammation of the nervous system.

NSAIDs

Non-Steriodal Anti-Inflammatory Drugs.

PNS

Peripheral Nervous System – all nerves outside the CNS.

STC

Stem Cell Transplant – the use of stem cells as a treatment for cancer or other disorder.