Glossary

A compilation of basic terms somehow relating to ataxia. Definitions were taken from- Medicinenet.com and Merriam Webster Medical Dictionary unless otherwise stated. Information on specific ataxias and related diseases can be found throughout this website. Try one of the following glossaries for a more comprehensive list if you can't find what your looking for here.

http://ghr.nlm.nih.gov/ghr/page/Home;jsessionid=59AAE3888FA17F9FE0F06396F87E543B
http://www.csuchico.edu/~pmccaff/syllabi/glossary.htm
http://life.fudan.edu.cn/inforservice/dictionary/Glossary/findterm.htm
http://www.genome.gov/glossary.cfm
http://genetown.biospace.com/gls_index.cfm
http://www.nationalmssociety.org/glossary.asp

A:
allele
antioxidant
apraxia
aspiration
ataxia
atrophy
arrhythmia
auditory neuropathy
autoimmune
autosome
recessive
dominant

B:
babinski reflex

C:
cardiomyopathy
carpal tunnel syndrome
carrier
central nervous system
cerebellum
computed tomography- CT Scan

D:
diabetes
diplopia
dysphagia
dysarthia
dysthymia

E:
echocardiogram- Echo
electrocardiogram- EKG/ECG
electromyogram- EMG
episodic
extensor

F:
flexor
frataxine
free radicals

G:
gait
gene therapy
genetic counseling
genetic testing

H:
hammer toe
hereditary

I:
intention tremor

L:
lumbar puncture

M:
magnetic resonance imaging- MRI
mitochondria
mutation

N:
nerve conduction velocity test-NCV
neuro-ophthalmology
neurologist
neuron
neuropathy
nystagmus

O:
occupational therapist

P:
pain
peripheral nervous system- PNS
peripheral neurpathy
pes cavus
PET scan
physio/physical therapy

R:
restless legg syndrome

S:
scoliosis
sleep apnea
speech-language pathologist (speech therapist)
sporadic

T:
tremor
trinucleotide repeat

U:
urinary incontinence

V:
vertigo

Allele:
1 : any of the alternative forms of a gene that may occur at a given locus
2 : either of a pair of alternative Mendelian characters (as ability versus inability to taste the chemical phenylthiocarbamide)

Antioxidant:
Any substance that reduces oxidative damage (damage due to oxygen) such as that caused by free radicals. Free radicals are highly reactive chemicals that attack molecules by capturing electrons and thus modifying chemical structures. Well-known antioxidants include a number of enzymes and other substances such as vitamin C, vitamin E and beta carotene (which is converted to vitamin A) that are capable of counteracting the damaging effects of oxidation. Antioxidants are also commonly added to food products like vegetable oils and prepared foods to prevent or delay their deterioration from the action of air.

Apraxia:
The inability to execute a voluntary motor movement despite being able to demonstrate normal muscle function. Apraxia is not related to a lack of understanding or to any kind of physical paralysis but is caused by a problem in the cortex of the brain. *Ocular: Having to do with the eye.

Aspiration:
Removal of a sample of fluid and cells through a needle. Aspiration also refers to the accidental sucking in of food particles or fluids into the lungs.

Ataxia:
: an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders
Ataxia is a symptom, not a specific disease or diagnosis. Ataxia means clumsiness, or loss of coordination. Ataxia may affect the fingers and hands, the arms or legs, the body, speech or eye movements.

Atrophy:
Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass.

Arrhythmia:
An abnormal heart rhythm.

In an arrhythmia the heartbeats may be too slow, too rapid, too irregular, or too early. Rapid arrhythmias (greater than 100 beats per minute) are called tachycardias. Slow arrhythmias (slower than 60 beats per minute) are called bradycardias. Irregular heart rhythms are called fibrillations (as in atrial fibrillation and ventricular fibrillation). When a single heartbeat occurs earlier than normal, it is called a premature contraction.

The term arrhythmia comes from the Greek a-, loss + rhythmos, rhythm = loss of rhythm.

Auditory Neuropathy:
a hearing disorder in which sound enters the inner ear normally but the transmission of signals from the inner ear to the brain is impaired. It can affect people of all ages, from infancy through adulthood. The number of people affected by auditory neuropathy is not known, but the condition affects a relatively small percentage of people who are deaf or hearing- impaired.

People with auditory neuropathy may have normal hearing, or hearing loss ranging from mild to severe; they always have poor speech-perception abilities, meaning they have trouble understanding speech clearly. Often speech perception is worse than would be predicted by the degree of hearing loss. For example, a person with auditory neuropathy may be able to hear sounds, but would still have difficulty recognizing spoken words. Sounds may fade in and out for these individuals and seem out of sync.

Auditory Neuropathy runs in some families, which suggests that genetic factors may be involved in some cases. Some people with auditory neuropathy have neurological disorders that also cause problems outside of the hearing system. Examples of such disorders are Charcot-Marie Tooth syndrome and Friedreich's Ataxia.

Taken from : http://www.nidcd.nih.gov/health/hearing/neuropathy.asp

Autoimmune:
Pertaining to autoimmunity, a misdirected immune response that occurs when the immune system goes awry and attacks the body itself.

Autoimmunity is present to some extent in everyone and is usually harmless. However, autoimmunity can cause a broad range of human illnesses, known collectively as autoimmune diseases. Autoimmune diseases occur when there is progression from benign autoimmunity to pathogenic autoimmunity. This progression is determined by genetic influences as well as environmental triggers.

Autoimmunity is evidenced by the presence of autoantibodies (antibodies directed against the person who produced them) and T cells that are reactive with host antigens.

Autosome:
: a chromosome other than a sex chromosome -- called also nonsex chromosome

*Autosomal dominant:
A gene on one of the autosomes (non-sex chromosomes) that, if present, will almost always produce a specific trait or disease. An autosomal dominant disorder can be inherited when only one parent passes on the gene. The chance of passing the gene (and therefore the disease) to a child is 50-50 in each pregnancy.

*Recessive, autosomal:
A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene. If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and, consequently, developing the disease. There is a 50% chance of a child inheriting only one abnormal gene and of being a carrier, like the parents, and there is a 25% chance of the child inheriting both normal genes.

Babinski reflex:
An important neurologic test based, believe it or not, upon what the big toe does when the sole of the foot is stimulated. If the big toe goes up, that may mean trouble.

The Babinski reflex is obtained by stimulating the external portion (the outside) of the sole. The examiner begins the stimulation back at the heel and goes forward to the base of the toes. There are diverse ways to elicit Babinski response. A useful way that requires no special equipment is with firm pressure from the examiner's thumb. Just stroke the sole firmly with the thumb from back to front along the outside edge.

Care must be taken not to overdo it. Too vigorous stimulation may cause withdrawal of the foot or toe, which can be mistaken as a Babinski response.

The Babinski reflex is characterized by extension of the great toe and also by fanning of the other toes.

Most newborn babies are not neurologically mature and therefore show a Babinski response. Upon stimulation of the sole, they extend the great toe . Many young infants do this, too, and it is perfectly normal. However, in time during infancy the Babinski response vanishes and, under normal circumstances, should never return.

A Babinski response in an older child or adult is abnormal. It is a sign of a problem in the central nervous system (CNS), most likely in a part called the pyramidal tract.

Asymmetry of the Babinski response -- when it is present on one side but not the other -- is abnormal. It is a sign not merely of trouble but helps to lateralize that trouble (tell which side of the CNS is involved).

The Babinski reflex is known by a number of other names: the plantar response (because the sole is the plantar surface of the foot), the toe or big toe sign or phenomenon, the Babinski phenomenon or sign. (It is wrong to say that the Babinski reflex is positive or negative; it is present or absent).

Babinski, despite the Slavic sound of the name, was French: Joseph Francois Felix Babinski (1857-1932). He will never be forgotten in medicine, thanks to the reflex he found.

Cardiomyopathy:
: any structural or functional disease of heart muscle that is marked especially by hypertrophy of cardiac muscle, by enlargement of the heart, by rigidity and loss of flexibility of the heart walls, or by narrowing of the ventricles but is not due to a congenital developmental defect, to coronary atherosclerosis, to valve dysfunction, or to hypertension

*Hypertrophic cardiomyopathy: A genetic disorder of the heart characterized by increased thickness (hypertrophy) of the wall of the left ventricle, the largest of the four chambers of the heart.

Carpal Tunnel Syndrome:
A type of compression neuropathy (nerve damage) caused by compression and irritation of the median nerve in the wrist. The nerve is compressed within the carpal tunnel, a bony canal in the palm side of the wrist that provides passage for the median nerve to the hand. The irritation of the median nerve is specifically due to pressure from the transverse carpal ligament.

Carriers:
those who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.

Central nervous system (CNS):
The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord.

Cerebellum:
: a large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum and formed in humans of two lateral lobes and a median lobe

Computed Tomography-CT Scan:
An x-ray procedure that uses a computer to produce a detailed picture of a cross section of the body; also called CAT or CT scan.

Diabetes Mellitus:
: a variable disorder of carbohydrate metabolism caused by a combination of hereditary and environmental factors and usually characterized by inadequate secretion or utilization of insulin, by excessive urine production, by excessive amounts of sugar in the blood and urine, and by thirst, hunger, and loss of weight

*a group of metabolic diseases characterized by high blood sugar (glucose) levels, which result from defects in insulin secretion, or action, or both. Diabetes mellitus, commonly referred to as diabetes, means "sweet urine." Elevated levels of blood glucose (hyperglycemia) lead to spillage of glucose into the urine, hence the term sweet urine. Normally, blood glucose levels are tightly controlled by insulin, a hormone produced by the pancreas. Insulin lowers the blood glucose level. When the blood glucose elevates (for example, after eating food), insulin is released from the pancreas to normalize the glucose level. In patients with diabetes mellitus, the absence or insufficient production of insulin causes hyperglycemia. Diabetes mellitus is a chronic medical condition, meaning it can last a lifetime.

Diplopia:
The condition in which a single object appears as two objects. Also called "double vision." From the Greek diplo- (double) + -opia (vision).

Dysphagia:
Difficulty in swallowing. Dysphagia is due to problems in nerve or muscle control. It is common, for example, after a stroke. Dysphagia compromises nutrition and hydration and may lead to aspiration pneumonia and dehydration. Phagein in Greek means to eat. Trouble eating.

Dysarthria:
Speech that is characteristically slurred, slow, and difficult to produce (difficult to understand). The person with dysarthria may also have problems controlling the pitch, loudness, rhythm, and voice qualities of their speech. Dysarthria is a disorder caused by paralysis, weakness, or inability to coordinate the muscles of the mouth. Dysarthria can occur as a developmental disability. It may be a sign of a neuromuscular disorder such cerebral palsy or Parkinson disease. It may also be caused by a stroke, brain injury, or brain tumor.

Dysthymia:
A type of depression involving long-term, chronic symptoms that are not disabling, but keep a person from functioning at "full steam" or from feeling good. Dysthymia is a less severe type of depression than what is accorded the diagnosis of major depression. However, people with dysthymia may also sometimes experience major depressive episodes, suggesting that there is a continuum between dysthymia and major depression.

Echocardiogram:
called an echo for short, an ultrasound to examine and measure the structure and functioning of the heart and to diagnose abnormalities and disease

Electrocardiogram-EKG/ECG:
A recording of the electrical activity of the heart. An electrocardiogram is a simple, non-invasive procedure. Electrodes are placed on the skin of the chest and connected in a specific order to a machine that, when turned on, measures electrical activity all overaround the heart. Output is usually in the form of a long scroll of paper displaying a printed graph of activity. Newer models output the data directly to a computer and screen, although a print-out may still be made.

Electromyogram- EMG:
An electromyogram (EMG) is a test that is used to record the electrical activity of muscles. When muscles are active, they produce an electrical current. This current is usually proportional to the level of the muscle activity. An EMG is also referred to as a myogram.

EMGs can be used to detect abnormal muscle electrical activity that can occur in many diseases and conditions, including muscular dystrophy, inflammation of muscles, pinched nerves, peripheral nerve damage (damage to nerves in the arms and legs), amyotrophic lateral sclerosis (ALS) (also known as Lou Gehrig disease), myasthenia gravis, disc herniation, and others.

Why is an EMG test done?

An EMG is most often performed when patients have unexplained muscle weakness. The EMG helps to distinguish between muscle conditions in which the problem begins in the muscle and muscle weakness due to nerve disorders. The EMG can also be used to detect true weakness, as opposed to weakness from reduced use because of pain or lack of motivation.

What kinds of EMG are there?

There are two types of EMG: intramuscular EMG and surface EMG (SEMG).

Intramuscular EMG (the most commonly used type) involves inserting a needle electrode through the skin into the muscle whose electrical activity is to be measured.

Surface EMG (SEMG) involves placing the electrodes on (not into) the skin overlying the muscle to detect the electrical activity of the muscle.

Intramuscular EMG is the "classic" form of EMG (and is the main subject here).

How is an intramuscular EMG done?

A needle is inserted through the skin into the muscle. The electrical activity is detected by this needle (which serves as an electrode). The activity is displayed visually on an oscilloscope and may also be displayed audibly through a microphone.

Since skeletal muscles are often large, several needle electrodes may need to be placed at various locations to obtain an informative EMG.

After placement of the electrode(s), the patient may be asked to contract the muscle (for example, to bend the leg).

The presence, size, and shape of the wave form (the action potential) produced on the oscilloscope provide information about the ability of the muscle to respond to nervous stimulation. Each muscle fiber that contracts produces an action potential. The size of the muscle fiber affects the rate (how frequently an action potential occurs) and the size (the amplitude) of the action potential.

How do you prepare for an intramuscular EMG?

For adults, no special preparation is needed. For infants and children, the physical and psychological preparation depends on the child's age, behavior, and prior experience. (For instance, has the child been traumatized by another medical or dental procedure?)

Does an EMG hurt?

Yes. There is some undeniable discomfort at the time the needle electrodes are inserted. They feel like shots (intramuscular injection), although nothing is injected during an EMG. Afterwards, the muscle may feel a little sore for up to a few days.

What is the current status of a surface EMG (SEMG)?

SEMG has some attractive features. Most notably, it does not involve piercing the skin and does not hurt. However, the available medical literature indicates that the clinical value of the information gathered by SEMG has not been well established.

The American Association of Electrodiagnostic Medicine has reported: "There is in fact almost no literature to support the use of SEMG in the clinical diagnosis and management of nerve or muscle disease." Still, the SEMG may prove of value in the future in helping to monitor the progression of disorders of the nerves and muscles.

What other test is done during an intramuscular EMG?

A nerve conduction velocity (NCV) test is often done at the same time as an EMG. In this test, the nerve is electrically stimulated while a second electrode detects the electrical impulse 'down stream' from the first. This is usually done with surface patch electrodes (they are similar to those used for an electrocardiogram) that are placed on the skin over the nerve at various locations. One electrode stimulates the nerve with a very mild electrical impulse. The resulting electrical activity is recorded by the other electrodes. The distance between electrodes and the time it takes for electrical impulses to travel between electrodes are used to calculate the speed of impulse transmission (nerve conduction velocity). A decreased speed of transmission indicates nerve disease.

The NCV test can be used to detect true nerve disorders (such as neuropathy) or conditions whereby muscles are affected by nerve injury (such as carpal tunnel syndrome). Normal body temperature must be maintained for the NCV test, because low body temperatures slow nerve conduction.

The word "electromyography" looks dauntingly long but it is made up of three parts: "electro-" + "-myo-" + "-graphy." ("-myo-" is from the Greek "mys", meaning muscle and "graphy" comes from the Greek "grapho" meaning to write) . So electromyography literally is the writing (recording) of muscle electricity.

Episodic:
: an event that is distinctive and separate although part of a larger series ; especially : an occurrence of a usually recurrent pathological abnormal condition

Extensor:
: a muscle serving to extend a bodily part (as a limb) -- called also extensor muscle

Flexor:
: a muscle serving to bend a body part (as a limb) -- called also flexor muscle -

Frataxine:
a protein which is in insufficient quantity in Friedreich's Ataxia patients. Taken from the Internaf website.

Free Radicals:
highly reactive chemicals that attack molecules by capturing electrons and thus modifying chemical structures

Gait:
A manner of walking. Observation of the gait can provide clues to a number of diagnoses including Parkinson disease, cerebral palsy, congenital dislocation of the hip, and stroke.

Gene Therepy:
: the insertion of usually genetically altered genes into cells especially to replace defective genes in the treatment of genetic disorders or to provide a specialized disease-fighting function (as the destruction of tumor cells)

Genetic Counseling:
: guidance provided by a medical professional typically to individuals with an increased risk of having offspring with a specific genetic disorder and that includes providing information and advice concerning the probability of producing offspring with the disorder, prenatal diagnostic tests, and available treatments

Genetic testing:
Tests done for clinical genetic purposes. Genetic tests may be done for diverse purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and adults; the identification of future disease risks; the prediction of drug responses; and the detection of risks of disease to future children.

Hammer toe: A flexed (curled) but not abnormally rotated toe. May require surgical correction.

Hereditary:
1 : genetically transmitted or transmittable from parent to offspring -- compare ACQUIRED 2, CONGENITAL 2, FAMILIAL
2 : of or relating to inheritance or heredity

Intention Tremor:
: a slow tremor of the extremities that increases on attempted voluntary movement and is observed in certain diseases (as multiple sclerosis) of the nervous system

Lumbar puncture:
A lumbar puncture or "LP" is a procedure whereby spinal fluid is removed from the spinal canal for the purpose of diagnostic testing. It is particularly helpful in the diagnosis of inflammatory diseases of the central nervous system, especially infections, such as meningitis. It can also provide clues to the diagnosis of stroke, spinal cord tumor and cancer in the central nervous system.

A lumbar puncture is so-called because the needle goes into the lumbar portion (the "small") of the back. Other names for a lumbar puncture (an LP) include spinal tap, spinal puncture, thecal puncture, and rachiocentesis.

An LP is most commonly done for diagnostic purposes, namely to obtain a sample of the fluid in the spinal canal (the cerebrospinal fluid) for examination.

An LP can also be done for therapeutic purposes, namely as a way of administering antibiotics, cancer drugs, or anesthetic agents into the spinal canal. Spinal fluid is sometimes removed by LP for the purpose of decreasing spinal fluid pressure in patients with uncommon conditions (such as, for examples, normal-pressure hydrocephalus and benign intracranial hypertension).

The patient is typically lying down sideways for the procedure. Less often, the procedure is performed while the patient is sitting up. LPs in infants are often done upright.

After local anesthesia is injected into the small of the back (the lumbar area), a needle is inserted in between the nearby bony building blocks (vertebrae) into the spinal canal. (The needle is usually placed between the 3rd and 4th lumbar vertebrae). Spinal fluid pressure can then be measured and cerebrospinal fluid (CSF) removed for testing.

Magnetic resonance imaging-MRI:
A special radiology technique designed to image internal structures of the body using magnetism, radio waves, and a computer to produce the images of body structures. The MRI scanner is a tube surrounded by a giant circular magnet. The patient is placed on a moveable bed that is inserted into the magnet. The magnet creates a strong magnetic field that aligns the protons of hydrogen atoms, which are then exposed to a beam of radio waves. This spins the various protons of the body, and they produce a faint signal that is detected by the receiver portion of the MRI scanner. A computer processes the receiver information, and an image is produced. The image and resolution is quite detailed and can detect tiny changes of structures within the body.

MRI images tend to be quite clear, particularly those of the soft tissue, brain and spinal cord, abdomen and joints, and they may be superior to routine X-ray images of such structures.

An MRI is painless and has the advantage of avoiding x-ray radiation exposure. There are no known risks of an MRI. The benefits of an MRI relate to its precise accuracy in detecting structural abnormalities of the body.

Patients with heart pacemakers, metal implants, or metal chips or clips in or around the eyes cannot be scanned with MRI because of the effect of the magnet. Metallic chips, materials, surgical clips, or foreign material (artificial joints, metallic bone plates, or prosthetic devices, etc.) can significantly distort the images obtained by the MRI scanner. Similarly, patients with artificial heart valves, metallic ear implants, bullet fragments, and chemotherapy or insulin pumps should also not have an MRI.

Claustrophobia can be a problem. For an MRI, patients lie in a closed area inside the magnetic tube. Some patients experience a feeling of claustrophobia.

Mitochondria:
: any of various round or long cellular organelles of most eukaryotes that are found outside the nucleus, produce energy for the cell through cellular respiration, and are rich in fats, proteins, and enzymes -- called also chondriosome

Mutation:
1 : a relatively permanent change in hereditary material involving either a physical change in chromosome relations or a biochemical change in the codons that make up genes ; also : the process of producing a mutation
2 : an individual, strain, or trait resulting from mutation

Nerve Conduction Velocity Test:
A nerve conduction velocity test (NCV), is an electrical test that is used to detect nerve conditions. In this test, the nerve is electrically stimulated while a second electrode detects the electrical impulse 'down stream' from the first. This is usually done with surface patch electrodes (they are similar to those used for an electrocardiogram) that are placed on the skin over the nerve at various locations. One electrode stimulates the nerve with a very mild electrical impulse. The resulting electrical activity is recorded by the other electrodes. The distance between electrodes and the time it takes for electrical impulses to travel between electrodes are used to calculate the speed of impulse transmission (nerve conduction velocity). A decreased speed of transmission indicates nerve disease. A nerve conduction velocity test is often done at the same time as an electromyogram (EMG) in order to exclude or detect muscle conditions.

When is a nerve conduction velocity test used?

neuro-ophthalmology:
: the neurological study of the eye

Neurologist:
A doctor who specializes in the diagnosis and treatment of disorders of the nervous system

Neuron:
A nerve cell that sends and receives electrical signals over long distances within the body. A neuron may send electrical output signals to muscle neurons (called motor neurons or motoneurons) and to other neurons. A neuron may receive electrical input signals from sensory cells (called sensory neurons) and from other neurons. A neuron that simply signals another neuron is called an interneuron.

The word "neuron" comes straight from the Greek meaning "a sinew, tendon, thong, string, or wire." The term was introduced to designate a nerve cell by the English physiologist Sir Charles Scott Sherrington (1857-1952). Sherrington was an influential figure in the development of neurophysiology (the intersection between neurology and physiology), clinical neurology and neurosurgery ("brain surgery"). He worked at Oxford University. Aside from the "neuron," he also coined other useful terms including "synapse." Sherrington shared the Nobel Prize in Medicine or Physiology in 1932 with Lord Edgar Douglas Adrian of Cambridge University for "their discoveries regarding the functions of neurons."

Neuropathy:
: an abnormal and usually degenerative state of the nervous system or nerves ; also : a systemic condition (as muscular atrophy) that stems from a neuropathy

Nystagmus:
: a rapid involuntary oscillation of the eyeballs occurring normally with dizziness during and after bodily rotation or abnormally after injuries (as to the cerebellum or the vestibule of the ear)

Occupational therapist:
A licensed health professional who is trained to evaluate patients with joint conditions, such as arthritis, to determine the impact the disease on their activities of daily living. Occupational therapists can design and prescribe assistive devices that can improve the quality of the activities of daily living for patients with arthritis and other conditions of the muscles and joints.

Pain:
An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia. Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.

Pain is also a term specifically used to denote a painful uterine contraction occurring in childbirth.

The word "pain" comes from the Latin "poena" meaning a fine, a penalty.

Peripheral Nervous System-PNS:
That portion of the nervous system that is outside the brain and spinal cord.

Peripheral Neuropathy:
: a disease or degenerative state (as polyneuropathy) of the peripheral nerves in which motor, sensory, or vasomotor nerve fibers may be affected and which is marked by muscle weakness and atrophy, pain, and numbness...

What is a peripheral neuropathy?

The term peripheral neuropathy describes a problem with the functioning of the nerves outside of the spinal cord. The symptoms of a neuropathy may include numbness, weakness, burning pain (especially at night), and loss of reflexes. The pain may be severe and disabling.

What causes a peripheral neuropathy?

There are many possible causes of peripheral neuropathy, including:

1. Some of the most common causes include repetitive activities such as typing or working on an assembly line. In this case, the neuropathy may be isolated to the upper extremities, such as with carpal tunnel syndrome.

2. Pressure on a nerve can cause a peripheral neuropathy. For example, pressure on a nerve that comes out from the groin to the skin in front of the upper thigh (the lateral femoral cutaneous nerve) can cause burning and tingling in this location. This particular problem is called meralgia paresthetica and can be caused by wearing a tight belt or other restrictive clothing. Additionally, it can result from being overweight or pregnant.

3. Many illnesses can result in peripheral neuropathy. Some examples include diabetes, syphilis, AIDS, and kidney failure.

4. Other causes include nutritional deficiencies, such as B-12 and folate deficiency, medications and chemical exposures. Medications known to cause peripheral neuropathy, include several AIDS drugs (DDC and DDI), antibiotics (metronidazole, an antibiotic used for Crohn's disease, isoniazid used for TB), gold compounds (used for rheumatoid arthritis), some chemotherapy drugs (such as vincristine and others) and many others. Chemicals known to cause peripheral neuropathy include alcohol, lead, arsenic, mercury and organophosphate pesticides.

5. Some peripheral neuropathies are associated with diseases which are inherited (hereditary). Others are related to infectious processes (such as Guillian-Barre syndrome).

Is there any treatment for peripheral neuropathy?

The treatment for peripheral neuropathy depends on its cause. Many peripheral neuropathies can be treated by addressing the underlying cause (such as vitamin deficiency). Others can be prevented from occurring. For example, controlling diabetes may prevent diabetic neuropathy. Still others can be corrected by surgery (for example carpal tunnel syndrome). Neuropathies that are associated with immune diseases can improve with treatment directed at the abnormal features of the immune system.

If a specific treatment isn't available, the pain of the neuropathy can usually be controlled. The simplest treatment is acetaminophen, ibuprofen, or aspirin. Tricyclic antidepressants such as amitriptyline (ELAVIL) and anti-seizure medications, such as carbamazepine (TEGRETOL) have been used to relieve the pain of neuropathy. Capsaicin, the chemical responsible for chili peppers being hot, is used as a cream to help relieve the pain of a peripheral neuropathy. Finally, a nerve block may be effective at relieving the pain.

If you believe you have a peripheral neuropathy, you should contact your health care practitioner since many causes of peripheral neuropathy can be successfully treated.

Peripheral Neuropathy At A Glance

* There are many causes of peripheral neuropathy, including many drugs, diabetes, kidney failure, and vitamin deficiency.
* Many causes of peripheral neuropathy can be successfully treated or prevented.
* The treatment for a peripheral neuropathy depends on its cause.

Pes cavus:
Literally a hollow foot, pes cavus is a foot with too high an arch.

PET scan: Positron emission tomography
a highly specialized imaging technique using short-lived radioactive substances. This technique produces three-dimensional colored images.

PET scanning provides information about the body's chemistry not available through other procedures. Unlike CT (computerized tomography) or MRI (magnetic resonance imaging), which look at anatomy or body form, PET studies metabolic activity or body function. PET has been used primarily in cardiology, neurology, and oncology. In particular, it has been used to assess the benefit of coronary artery bypass surgery, identify causes of childhood seizures and adult dementia, and detect and grade tumors. It is very sensitive in picking up active tumor tissue but does not measure the size of it.

In PET the patient receives a short half-lived radiopharmaceutical (produced by a cyclotron or a generator). Because the radioisotope used in a PET scan is short-lived, the amount of radiation exposure the patient receives is about the same as two chest X-rays. The radiopharmaceuticals discharge positrons from wherever they are used in the body. As the positrons encounter electrons within the body, a reaction producing gamma rays occurs.

The patient lies on a table that slides into the middle of the scanner. Within the scanner are rings of detectors containing special crystals that produce light when struck by a gamma ray. The scanner's electronics record these detected gamma rays and map an image of the area where the radiopharmaceutical is located. Since the radiopharmaceutical contains a chemical commonly used by the body, PET enables the physician to see the location of the metabolic process. For example, glucose (or sugar, which the body uses to produces energy) combined with a radioisotope will show where glucose is being used in the brain, the heart muscle, or a growing tumor.

Physio/Physical Therapy:
A branch of rehabilitative health that uses specially designed exercises and equipment to help patients regain or improve their physical abilities. Physical therapists work with many types of patients, from infants born with musculoskeletal birth defects, to adults suffering from sciatica or the after- effects of injury, to elderly post-stroke patients.

Restless Leg Syndrome:

What is restless leg syndrome?

Restless leg syndrome is a common cause of painful legs. The leg pain of restless leg syndrome typically eases with motion of the legs and becomes more noticeable at rest. Restless leg syndrome also features worsening of symptoms during the early evening or later at night. The characteristic nighttime worsening of symptoms in persons with restless legs syndrome frequency leads to insomnia.

Restless leg syndrome usually begins slowly. Over time, the legs become more affected. Less frequently, restless leg syndrome can affect the arms.

What causes restless leg syndrome?

The cause of restless leg syndrome is unknown in most patients. However, restless leg syndrome has been associated with pregnancy, obesity, smoking, iron deficiency and anemia, nerve disease, polyneuropathy (which can be associated with hypothyroidism, heavy metal toxicity, toxins, and many other conditions), other hormone disease, such as diabetes, and kidney failure (which can be associated with vitamin and mineral deficiency). Some drugs and medications have been associated with restless leg syndrome including caffeine, alcohol, H2-histamine blockers (such as Zantac and Tagamet) and certain antidepressants (such as Elavil).

Occasionally, restless legs run in families. Recent studies have shown that restless leg syndrome appears to become more common with age.

Can other conditions mimic restless leg syndrome?

There are many conditions which can mimic restless leg syndrome including muscle diseases, joint conditions, nerve problems, and circulation difficulties.

What is treatment for restless leg syndrome?

Treatment of restless leg syndrome is first directed toward any underlying illness, if known. Reduction or elimination of caffeine and alcohol can be very helpful. Stopping smoking can also diminish symptoms. Getting better sleep and exercise can help some persons affected by restless legs.

Medications used to treat restless leg syndrome include carbidopa- levodopa, opioids (such as propoxyphene) for intermittent symptoms, carbamazepine, clonazepam, diazepam, baclofen, bromocriptine and clonidine. Recently, gabapentin (Neurontin) has been found helpful.

Other treatments that have been helpful for some patients include avoiding caffeine, warm/cold baths, electric nerve stimulation, and acupuncture.

Restless Leg Syndrome At A Glance

* Restless leg syndrome is a condition marked by unpleasant leg sensations at bedtime.
* Restless leg syndrome frequency leads to insomnia.
* The cause of restless leg syndrome is unknown in most patients, but many conditions have been associated with it.
* Treatment of restless leg syndrome is directed toward any underlying illness, if known.
* Medications are available for restless leg syndrome.

Scoliosis:
Sideways (lateral) curving of the spine (the backbone).

The degree of scoliosis may range from mild to severe. Scoliosis is often an incidental and harmless finding. People with mild curves may only need to visit the doctor periodically for observation. Persons with more severe scoliosis may require treatment -- bracing, casting or surgical correction. Of every 1,000 children, 3 to 5 develop spinal curves that are considered severe enough to need treatment.

Adolescent idiopathic scoliosis ("idiopathic" means "of unknown cause") is the most common type and appears after the age of 10. Girls are more likely than boys to have this type of scoliosis. Scoliosis can run in families so that a child who has a parent, brother, or sister with idiopathic scoliosis should be checked regularly for this condition.

*Kyphosis is a related but distinct condition. It is an outward curvature of the spine which results in a humped back.

*Kyphoscoliosis refers to a combination of kyphosis and scoliosis in which the spine is twisted and curved both outwardly and sideways.

Sleep Apnea:
A breathing disorder characterized by brief interruptions of breathing during sleep. Central sleep apnea occurs when the brain fails to send the appropriate signals to the breathing muscles to initiate respirations. Central sleep apnea is less common than obstructive sleep apnea. Diagnosis is by observation, patient history, and polysomnography. Treatment depends on the patient's medical history and the cause of sleep apnea. Options include lifestyle changes, dental appliances, continuous positive airway pressure (CPAP), and various types of surgery to correct physical defects that contribute to sleep apnea.

Speech-Language Pathologist (SLP):
A specialist who evaluates and treats people with communication and swallowing problems. Also called a speech therapist

Sporadic:
Occurring upon occasion or in a scattered, isolated or seemingly random way.

A disorder that is sporadic is by definition neither an endemic, an epidemic, nor a pandemic:

* An endemic is present in a community at all times but in low frequency. An endemic is continuous, as in the case of malaria in some areas of the world or as with illicit drugs in certain neighborhoods.
* An epidemic involves more than the expected number of cases of disease occurring in a community or region during a given period of time. An epidemic is typically a sudden severe outbreak within a region or a group as, for example, AIDS in intravenous drug users.
* A pandemic is an epidemic that becomes very widespread and affects a whole region, a continent, or the world. For example, AIDS is now pandemic in Africa.

"Sporadic" is from the Greek ""sporadikos" meaning "scattered."

Tremor:
Any abnormal repetitive shaking movement of the body. Tremors have many causes and can be inherited, be related to illnesses such as thyroid disease, or caused by fever, hypothermia, drugs or fear.

Trinucleotide Repeats:
Quantification of the number of trinucleotide repeats (sets of three nucleotides of identical sequence) in a segment of DNA

Urinary incontinence (UI):
is the unintentional loss of urine. UI is a problem for more than 17 million Americans Ð 85 percent of them women. Although about half of the elderly have episodes of incontinence, bladder problems are not a natural consequence of aging, and they are not exclusively a problem of the elderly.

Although UI can be improved in 8 out of 10 cases, fewer than half of those with bladder problems ever discuss the condition with their health care professional. The disorder, therefore, often goes untreated.

UI is also referred to as bladder incontinence.

What are causes of UI?

UI has a number of causes. Women are most likely to develop incontinence either during pregnancy and childbirth, or after the hormonal changes of menopause, because of weakened pelvic muscles. Older men can become incontinent as the result of prostate surgery. Pelvic trauma, spinal cord damage, caffeine, or medications, including cold preparations and diet drugs that are available over-the-counter, can also cause episodes of UI. Diseases which affect the nerves that control the bladder, such as multiple sclerosis, can be associated with UI.

Other factors that contribute to bladder incontinence include decreased mobility or impaired thinking (such as forgetfulness, confusion, or senility), particularly in combination with drugs such as sedatives, sleeping pills, and alcohol.

Vertigo:
1 : a disordered state which is associated with various disorders (as of the inner ear) and in which the individual or the individual's surroundings seem to whirl dizzily -- The word "vertigo" comes from the Latin "vertere", to turn + the suffix "-igo", a condition = a condition of turning about). Vertigo is medically distinct from dizziness, lightheadedness, and unsteadiness.