Glossary

Term Meaning
Ataxia Poor balance and lack of muscle co-ordination due to
problems with the nervous system.
Chorionic villus sampling (CVS) A procedure done early in pregnancy to obtain
a small sample of cells from the placenta.
These cells are similar to those of the developing baby
(fetus). The genetic make up of the cells is analyzed to
identify errors (called mutations).
Echocardiogram (ECHO) An ultrasound scan to examine the heart.
Electroencephalogram (EEG) A test to check the electrical activity of the brain and
detect seizures.
Forearm exercise test An exercise test that involves blood tests during
exercise and rest to measure ammonia and lactate
levels. Also called forearm ischemic test.
Hypotonia Decreased muscle tone. Babies with hypotonia
seem floppy, like a rag doll, when held.
Lumbar puncture A diagnostic test to measure the pressure in the spinal
column and take a sample of the fluid that surrounds
the brain and spinal cord (cerebrospinal fluid or CSF).
Also called a spinal tap.
Magnetic resonance imaging and scanning (MRI and MRS) A diagnostic test using a powerful magnet and radio
waves to see inside the body. This test can detect signs
of Mitochondrial disease in the brain.
Metabolism The chemical reactions in the body that make
energy. As mitochondria make 90% of the energy
needed by the body, they are an important part of
metabolism. As Mitochondrial disease affects
metabolism, it is called a metabolic disease.
Mitochondria Tiny structures inside every cells of the body
(except red blood cells) where energy is produced.
Almost all of the energy the body needs for life
and growth comes from mitochondria. A single
one is called a mitochondrion.
Muscle biopsy A procedure to obtain a tiny sample of muscle
for testing.
Mutation A specific change or error in a gene.
Pulmonary function test (PFT) A group of tests that measure how well the lungs
are working. Tests measure how well the lungs
take in and exhale air and how efficiently they
transfer oxygen from air into the blood.
Urine organic acids A urine test to check for metabolic disorders
present at birth (called inborn errors of
metabolism).
VO2 MAX The amount (volume) of oxygen (O2) used
when a person is exercising as much as possible
(maximum capacity). The VO2MAX indicates a
person’s fitness level. People with Mitochondrial
disease have a low VO2MAX, even lower than that
of people with inactive (sedentary) lives.

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