GLOSSARY OF TERMS

 

 

Atrophy

 

The deterioration of cells.

Autosomal

 

Pertaining to a chromosome that is not a sex chromosome. People normally have 22 pairs of autosomes (44 autosomes) in each cell, together with 2 sex chromosomes, X and Y in a male and X and X in a female.

Axonal Sensory Motor Polyneuropathy

 

A condition that causes a decreased ability to move or feel (sensation) due to nerve damage.

Cerebellar Ataxia

 

The cerebellum is the area of the brain responsible for controlling muscle coordination. Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements. Cerebellar ataxia is a form of ataxia originating in the cerebellum. 

Heterozygous

 

Humans contain two copies of each gene, one from the father and one from the mother, which sometimes are referred to as the alleles of a gene. If a mutation occurs in just one copy of the gene then that individual is considered heterozygous.

Mitochondria

 

Mitochondria are known as the powerhouses of the cell. They are organelles that act like a digestive system which takes in nutrients, breaks them down, and creates energy rich molecules for the cell. The biochemical processes of the cell are known as cellular respiration. Many of the reactions involved in cellular respiration happen in the mitochondria. Mitochondria are the working organelles that keep the cell full of energy. 
 

Mitochondrial Disease

 

A group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the ATP that powers most cell functions.

Myopathy

 

A muscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness.

Neuropathy

 

The term used to describe a problem with the nerves, usually the peripheral nerves as opposed to the central nervous system (the brain and spinal cord). 

Ocular

 

Of or connected with the eyes or vision.

Ophthalmoplegia

 

Paralysis of the muscles within or surrounding the eye.

Optic Nerve

 

The optic nerve connects the eye to the brain. The optic nerve carries the impulses formed by the retina, the nerve layer that lines the back of the eye and senses light and creates impulses. These impulses are dispatched through the optic nerve to the brain, which interprets them as images.

Peripheral Neuropathy

 

The peripheral nervous system sends information from your brain and spinal cord (central nervous system) to the rest of your body. Peripheral neuropathy is a result of damage to your peripheral nerves. It often causes weakness, numbness and pain, usually in your hands and feet. It can also affect other areas of your body.

Proximal Myopathy

 

Symmetrical weakness of proximal upper and/or lower limbs. 

Sensorineural Deafness

 

A type of hearing loss. It occurs from damage to the inner ear, the nerve that runs from the ear to the brain, (auditory nerve).

Spastic Paraparesis

 

A rare disorder where parts of the body develop spasticity and weakness. Usually the limbs are involved.

Syndromic

 

Occurring as a syndrome or part of a syndrome.

Systemic

 

Of or relating to a system, especially as opposed to a particular part. "The disease is localized rather than systemic."

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