Find out about MLD Metachromatic Leukodystrophy a genetic disorder which at the moment has no cure
Difficulty understanding/expressing language.
ARSA or ASA
Food, drink or saliva from the stomach or mouth entering the lungs.
The loss of full control of bodily movements, affecting co-ordination, balance and speech.
Blood Brain Barrier which separates the circulating blood from the brain and the CNS.
Bone Marrow Transplant – replacement of ineffective bone marrow with healthy bone marrow from a donor.
Central Nervous System – the brain and the spinal cord.
erebrospinal Fluid – fluid surrounding the CNS.
Difficulty or discomfort in swallowing, as a symptom of disease.
State of abnormal muscle tone resulting in muscular spasm and abnormal posture, typically due to neurological disease.
Enzyme Replacement Therapy – replacement of a missing or deficient enzyme with a man-made version.
A unit of heredity transferred from parent to offspring held to determine some characteristics.
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.
A condition in which the hip joint is partially, but not fully, dislocated.
One of a group of disorders characterised by degeneration of the white matter in the brain.
Lysosomal Storage Diseases – a large group of disorders caused by a deficiency of specific enzymes responsible for the degradation of substances present in lysosomes.
Neuroinflammation – inflammation of the nervous system.
Non-Steriodal Anti-Inflammatory Drugs.
Peripheral Nervous System – all nerves outside the CNS.
Stem Cell Transplant – the use of stem cells as a treatment for cancer or other disorder.