When some tissue or part of your bowel pushes through a weakness in your tummy (abdominal) wall.
A seizure which causes the affected person to blank out or stare into space for a few seconds.
Small lumps of tissue at the back of the nose, high up in the throat.
Surgery to remove the adenoids.
A valve in the heart, located between the left ventricle and the aorta.
A temporary interruption in breathing which can occur during sleep.
The liquid that surrounds an unborn baby during pregnancy.
Irregular rhythm of the heart.
Reduced in force, effect, or value.
The use of medicines to prevent pain during surgery and other procedures.
A type of drug that is used to treat hypertension (high blood pressure).
BILEVEL POSITIVE AIRWAY PRESSURE (BIPAP)
A type of non-invasive ventilation. It is used when you have a condition that makes it hard to breathe, such as sleep apnea.
A medical procedure that involves taking a small sample of body tissue so it can be examined under a microscope.
A slow heart rate.
A test to look at the inside of the airways in your lungs.
CARPAL TUNNEL SYNDROME (CTS)
A common syndrome described by pain, or numbness and tingling in the hand that sometimes radiates up the arm. The condition occurs when one of the major nerves to the hand is compressed at the wrist.
CARPAL TUNNEL RELEASE
An operation to relieve symptoms of carpal tunnel syndrome (CTS).
An individual who has a recessive, disease-causing version of a gene on one of their chromosomes and an unaffected version of the same gene on their other chromosome. Carriers are able to pass on the affected gene but do not have the signs and symptoms of the condition.
CENTRAL NERVOUS SYSTEM (CNS)
Comprised of the brain and spinal cord. The CNS receives sensory information from the nervous system and controls the body's responses.
Tiny projections of placental tissue that look like fingers and contain the same genetic material as the fetus.
A thread-like structure located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA).
When a person has trouble remembering, learning new things, concentrating, or making decisions that affect their everyday life.
A condition which describes the impaired reabsorption of cerebrospinal fluid (CSF) in the brain. Fluid can accumulate and cause pressure inside the head to increase.
A procedure that uses a computer linked to an X-ray machine to make a series of detailed images of the inside of the body.
CONTINUOUS POSITIVE AIRWAY PRESSURE (CPAP)
A machine that delivers just enough air pressure to a mask to keep your upper airway passages open, preventing snoring and sleep apnea.
A permanent tightening of muscle, tendons, ligaments, or skin. It prevents normal movement of the associated body part.
A glycosaminoglycan found predominantly in the skin but also in blood vessels, heart valves, tendons, lungs, and intestinal mucosa.
The collective term for the skeletal abnormalities observed in lysosomal storage disorders such as MPS II.
An ultrasound of the heart. It is a type of medical imaging of the heart.
A recording of the heart's electrical activity.
A small tube that is placed into the trachea (windpipe) through the mouth or nose to maintain a clear passageway to deliver oxygen or anesthesia to the lungs.
A protein that helps speed up metabolism or chemical reactions in our bodies. They build some substances and break others down.
A measure of the quantity of active enzyme present.
A type of cell that contributes to the formation of connective tissue, a fibrous cellular material that supports and connects other tissues or organs in the body. Fibroblasts are responsible for making collagen that helps support the structural framework of tissues.
The basic physical and functional unit of heredity. Genes are made up of DNA and can act as instructions to make proteins.
Also known as mucopolysaccharide. GAGs are long chains of carbohydrates found in all cells that help to build bone, cartilage, tendons, corneas, skin, and connective tissue. They are also found in the fluid that lubricates joints.
HEART VALVE DISEASE
A disease in which one or more of the valves in the heart doesn't work properly.
A glycosaminoglycan found attached to the cell surface or extracellular matrix proteins of all tissues.
The protrusion of an anatomical structure through the wall of the surrounding tissue.
An enzyme required for the lysosomal degradation of the glycosaminoglycans dermatan sulfate and heparan sulfate. People with MPS II do not have enough of this enzyme.
Occurs when fatty tissue or a part of the bowel, such as the intestine, pokes through into the groin at the top of the inner thigh. It pushes through a weak spot in the abdominal wall into an area called the inguinal canal.
A process where a healthcare provider inserts a tube through a person's mouth or nose, then down into their trachea (airway/windpipe). The tube keeps the trachea open so that air can get through.
An excessive curvature of the spine results in an abnormal rounding of the upper back.
Bands of tough elastic tissue around your joints. They connect bone to bone, give your joints support, and limit their movement.
LYSOSOMAL STORAGE DISEASE (LSD)
LSDs are a group of diseases characterized by the deficiency of specific lysosomal enzymes which are responsible for the degradation of specific cellular material, including mucopolysaccharides. Without enough of these enzymes, the substrates build up in the lysosomes.
A compartment inside a cell that contains enzymes which are responsible for breaking down waste proteins and carbohydrates.
MAGNETIC RESONANCE IMAGING (MRI)
A non-invasive imaging technology using magnets to produce three-dimensional anatomical images.
Also known as glycosaminoglycan (GAG). Mucopolysaccharides are long chains of carbohydrates found in all cells that help to build bone, cartilage, tendons, corneas, skin, and connective tissue. They are also found in the fluid that lubricates joints.
A group of several rare genetic lysosomal storage disorders resulting from single enzyme deficiencies that are needed to break down glycosaminoglycans.
A group of healthcare workers who are members of different disciplines, each providing specific services to the patient.
Any change in the DNA sequence of a cell. Mutations can be harmful, beneficial or have no effect. Mutations can also be inherited.
Your body's command center. Originating from your brain, it controls your movements, thoughts, and automatic responses to the world around you. It also controls other body systems and processes, such as digestion, breathing, and sexual development (puberty).
Having to do with the way the brain affects emotion, behavior, and learning.
A disease condition originating from abnormal activity of the nervous system.
A disease or condition not originating from abnormal activity of the nervous system.
A healthcare professional who can help patients adapt to make a task easier, enabling them to continue doing what is important to them.
Formal name for an eye care specialist.
A condition that affects fewer than 200,000 people nationwide.
Equipment designed to prevent or manage musculoskeletal problems.
Formal name for an ear, nose, and throat (ENT) specialist.
A healthcare professional who specializes in treating conditions that impact movement.
Helps to restore movement and function when someone is affected by injury, illness, or disability.
Relating to characteristics controlled by genes which are expressed in offspring only when inherited from both parents.
A lateral curvature of the spine.
Sudden, uncontrolled body movements and changes in behavior that occur from sudden, uncontrolled electrical activity in the brain.
The clear liquid part of the blood without blood cells and clotting proteins.
A hole or a small passage (usually using a tube) that is made to allow blood or other fluid to move from one part of the body to another. Usually placed in the brain, and occasionally the spine.
A narrowing of the spaces within the spine, which can put pressure on the nerves that travel through the spine.
A large abdominal organ situated just below the stomach which has various functions, including storing and filtering blood, conserving iron, and creating lymphocytes.
A rapid heart rate.
A fibrous connective tissue that attaches muscle to bone.
A form of seizure that involves both tonic (stiffening) and clonic (twitching or jerking) phases of muscle activity.
Surgical removal of the tonsils.
A surgical procedure in which an opening is made in the trachea (windpipe) in order to open up the airways. This is sometimes performed in an emergency situation, e.g. during upper airway obstruction.
Tiny cylinders, usually made of plastic or metal, that are surgically inserted into the eardrum. An ear tube creates an airway that ventilates the middle ear and prevents the accumulation of fluids behind the eardrum.
A hernia caused by abdominal organs protruding into the naval (bellybutton). It is most commonly seen in children.
A cavity of a bodily part or organ.
Associated with genes only located on the X chromosome. A male carrying such a mutation will be affected, as he only carries one X chromosome. A female carrying a mutation in one gene, with a normal gene on her other X chromosome, is generally unaffected.