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Friedreich's ataxia

Index Friedreich's ataxia

Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. [1]

125 relations: ACE inhibitor, Aconitase, Action potential, Activities of daily living, Adenosine triphosphate, Antioxidant, Assistive technology, Ataxia, Atrial fibrillation, Betz cell, BioMarin Pharmaceutical, Blood test, Cardiac stress test, Cardiomegaly, Cardiomyopathy, Cardiovascular disease, Cerebellum, Corticospinal tract, CT scan, Cuneate nucleus, Degeneration (medical), Dentate nucleus, Deuterated drug, Deuterium, Di-deuterated linoleic acid ethyl ester, Diabetes mellitus, Digoxin, DNA repair, Dominance (genetics), Dorsal root ganglion, Dorsal spinocerebellar tract, Dysarthria, Dysmetria, Dysphagia, Echocardiography, Electrocardiography, Electromyography, Electron transport chain, Fibroblast, Food and Drug Administration, Franco-Cantabrian region, Frantz Fanon, Frataxin, French Canadians, Friedreich's ataxia, Gait, Gait abnormality, Gamma-Aminobutyric acid, Gene silencing, Genetic disorder, ..., Genetic testing, Germany, Gracile nucleus, Haplogroup R1b, Hearing loss, Heart murmur, Heidelberg University, Heterochromatin, Histone deacetylase inhibitor, Horizon Pharma, Hydrogen, Hypertrophic cardiomyopathy, Hypertrophy, Idebenone, In vivo, Interferon gamma, Intron, Iron–sulfur protein, Jean Guyon, Lateral corticospinal tract, Lentiviral vector in gene therapy, Lipid bilayer, Lower motor neuron, Magnetic resonance imaging, Medullary pyramids (brainstem), Metabolism, Mitochondrial DNA, Mitochondrion, Motor neuron, Myelin, National Center for Biotechnology Information, Nerve conduction study, Nervous system, Nervous tissue, Neurodegeneration, New France, Nicotinamide, Nikolaus Friedreich, Nutrient, Nystagmus, Occupational therapist, Oxidative stress, Pathology, Peripheral nervous system, Pes cavus, Physical examination, Physical therapy, Placebo, Plantar arch, Point mutation, Polyunsaturated fatty acid, Population bottleneck, Position-effect variegation, Posterior column, Progressive disease, Proprioception, Reactive oxygen species, Reflex, Repligen, Retrotope, Saccade, Sclerosis (medicine), Scoliosis, Speech, Spinal cord, Spinocerebellar tract, Standing frame, Tachycardia, Transcription (biology), Translation (biology), Trinucleotide repeat disorder, Trinucleotide repeat expansion, Visual impairment, VO2 max, Wheelchair. Expand index (75 more) »

ACE inhibitor

An angiotensin-converting-enzyme inhibitor (ACE inhibitor) is a pharmaceutical drug used primarily for the treatment of hypertension (elevated blood pressure) and congestive heart failure.

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Aconitase

Aconitase (aconitate hydratase) is an enzyme that catalyses the stereo-specific isomerization of citrate to isocitrate via cis-aconitate in the tricarboxylic acid cycle, a non-redox-active process.

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Action potential

In physiology, an action potential occurs when the membrane potential of a specific axon location rapidly rises and falls: this depolarisation then causes adjacent locations to similarly depolarise.

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Activities of daily living

Activities of daily living (ADLs or ADL) is a term used in healthcare to refer to people's daily self care activities.

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Adenosine triphosphate

Adenosine triphosphate (ATP) is a complex organic chemical that participates in many processes.

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Antioxidant

Antioxidants are molecules that inhibit the oxidation of other molecules.

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Assistive technology

Assistive technology is an umbrella term that includes assistive, adaptive, and rehabilitative devices for people with disabilities while also including the process used in selecting, locating, and using them.

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Ataxia

Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality.

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Atrial fibrillation

Atrial fibrillation (AF or A-fib) is an abnormal heart rhythm characterized by rapid and irregular beating of the atria.

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Betz cell

Betz cells (also known as pyramidal cells of Betz) are giant pyramidal cells (neurons) located within the fifth layer of the grey matter in the primary motor cortex.

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BioMarin Pharmaceutical

BioMarin Pharmaceutical Inc. is an American biotechnology company headquartered in San Rafael, California.

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Blood test

A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a hypodermic needle, or via fingerprick.

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Cardiac stress test

A cardiac stress test (also referred to as a cardiac diagnostic test, cardiopulmonary exercise test, or abbreviated CPX test) is a cardiological test that measures the heart's ability to respond to external stress in a controlled clinical environment.

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Cardiomegaly

Cardiomegaly is a medical condition in which the heart is enlarged.

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Cardiomyopathy

Cardiomyopathy is a group of diseases that affect the heart muscle.

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Cardiovascular disease

Cardiovascular disease (CVD) is a class of diseases that involve the heart or blood vessels.

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Cerebellum

The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates.

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Corticospinal tract

The corticospinal tract is a white matter motor pathway starting at the cerebral cortex that terminates on lower motor neurons and interneurons in the spinal cord, controlling movements of the limbs and trunk.

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CT scan

A CT scan, also known as computed tomography scan, makes use of computer-processed combinations of many X-ray measurements taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of specific areas of a scanned object, allowing the user to see inside the object without cutting.

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Cuneate nucleus

One of the dorsal column nuclei, the cuneate nucleus is a wedge-shaped nucleus in the closed part of the medulla oblongata.

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Degeneration (medical)

Degeneration is deterioration in the medical sense.

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Dentate nucleus

The dentate nucleus is a cluster of neurons, or nerve cells, in the central nervous system that has a dentate – tooth-like or serrated – edge.

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Deuterated drug

Deuterated drug is a small molecule medicinal product in which one or more of the hydrogen atoms contained in the drug molecule have been replaced by its heavier stable isotope deuterium.

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Deuterium

Deuterium (or hydrogen-2, symbol or, also known as heavy hydrogen) is one of two stable isotopes of hydrogen (the other being protium, or hydrogen-1).

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Di-deuterated linoleic acid ethyl ester

Di-deuterated ethyl linoleate (also known as RT001; Di-deuterated linoleic acid ethyl ester, 11,11-D2-Ethyl Linoleate, Ethyl 11,11-D2-Linoleate) is an experimental, orally-bioavailable synthetic deuterated polyunsaturated fatty acid (PUFA), an isotopologue of an essential omega-6 PUFA, linoleic acid.

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Diabetes mellitus

Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.

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Digoxin

Digoxin, sold under the brand name Lanoxin among others, is a medication used to treat various heart conditions.

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DNA repair

DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Dorsal root ganglion

A dorsal root ganglion (or spinal ganglion) (also known as a posterior root ganglion), is a cluster of neurons (a ganglion) in a dorsal root of a spinal nerve.

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Dorsal spinocerebellar tract

The dorsal spinocerebellar tract (posterior spinocerebellar tract, Flechsig's fasciculus, Flechsig's tract) conveys proprioceptive information from proprioceptors in the skeletal muscles and joints to the cerebellum.

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Dysarthria

Dysarthria is a motor speech disorder resulting from neurological injury of the motor component of the motor-speech system and is characterized by poor articulation of phonemes.

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Dysmetria

Dysmetria (wrong length) refers to a lack of coordination of movement typified by the undershoot or overshoot of intended position with the hand, arm, leg, or eye.

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Dysphagia

Dysphagia is the medical term for the symptom of difficulty in swallowing.

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Echocardiography

An echocardiogram, often referred to as a cardiac echo or simply an echo, is a sonogram of the heart.

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Electrocardiography

Electrocardiography (ECG or EKG) is the process of recording the electrical activity of the heart over a period of time using electrodes placed on the skin.

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Electromyography

Electromyography (EMG) is an electrodiagnostic medicine technique for evaluating and recording the electrical activity produced by skeletal muscles.

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Electron transport chain

An electron transport chain (ETC) is a series of complexes that transfer electrons from electron donors to electron acceptors via redox (both reduction and oxidation occurring simultaneously) reactions, and couples this electron transfer with the transfer of protons (H+ ions) across a membrane.

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Fibroblast

A fibroblast is a type of biological cell that synthesizes the extracellular matrix and collagen, the structural framework (stroma) for animal tissues, and plays a critical role in wound healing.

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Food and Drug Administration

The Food and Drug Administration (FDA or USFDA) is a federal agency of the United States Department of Health and Human Services, one of the United States federal executive departments.

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Franco-Cantabrian region

The Franco-Cantabrian region (also Franco-Cantabric region) is a term applied in archaeology and history to refer to an area that stretches from Asturias, in northern Spain, to Aquitaine and Provence in southern France.

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Frantz Fanon

Frantz Fanon (20 July 1925 – 6 December 1961) was a Martinican psychiatrist, philosopher, revolutionary, and writer whose works are influential in the fields of post-colonial studies, critical theory, and Marxism.

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Frataxin

Frataxin is a protein that in humans is encoded by the FXN gene.

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French Canadians

French Canadians (also referred to as Franco-Canadians or Canadiens; Canadien(ne)s français(es)) are an ethnic group who trace their ancestry to French colonists who settled in Canada from the 17th century onward.

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Friedreich's ataxia

Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system.

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Gait

Gait is the pattern of movement of the limbs of animals, including humans, during locomotion over a solid substrate.

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Gait abnormality

Gait abnormality is a deviation from normal walking (gait).

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Gamma-Aminobutyric acid

gamma-Aminobutyric acid, or γ-aminobutyric acid, or GABA, is the chief inhibitory neurotransmitter in the mammalian central nervous system.

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Gene silencing

Gene silencing is the regulation of gene expression in a cell to prevent the expression of a certain gene.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Germany

Germany (Deutschland), officially the Federal Republic of Germany (Bundesrepublik Deutschland), is a sovereign state in central-western Europe.

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Gracile nucleus

Located in the medulla oblongata, the gracile nucleus is one of the dorsal column nuclei that participate in the sensation of fine touch and proprioception of the lower body (legs and trunk).

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Haplogroup R1b

Haplogroup R1b (R-M343), also known as Hg1 and Eu18, is a human Y-chromosome haplogroup.

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Hearing loss

Hearing loss, also known as hearing impairment, is a partial or total inability to hear.

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Heart murmur

Heart murmurs are heart sounds produced when blood flows across one of the heart valves that are loud enough to be heard with a stethoscope.

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Heidelberg University

Heidelberg University (Ruprecht-Karls-Universität Heidelberg; Universitas Ruperto Carola Heidelbergensis) is a public research university in Heidelberg, Baden-Württemberg, Germany.

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Heterochromatin

Heterochromatin is a tightly packed form of DNA or condensed DNA, which comes in multiple varieties.

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Histone deacetylase inhibitor

Histone deacetylase inhibitors (HDAC inhibitors, HDACi, HDIs) are chemical compounds that inhibit histone deacetylases.

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Horizon Pharma

Horizon Pharma Public Limited Company is an Irish pharmaceutical company that develops and markets medicines through its subsidiaries in the United States.

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Hydrogen

Hydrogen is a chemical element with symbol H and atomic number 1.

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Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened without an obvious cause.

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Hypertrophy

Hypertrophy (from Greek ὑπέρ "excess" + τροφή "nourishment") is the increase in the volume of an organ or tissue due to the enlargement of its component cells.

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Idebenone

Idebenone (pronounced eye-deb-eh-known, trade names Catena, Raxone, Sovrima, among others) is a drug that was initially developed by Takeda Pharmaceutical Company for the treatment of Alzheimer's disease and other cognitive defects.

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In vivo

Studies that are in vivo (Latin for "within the living"; often not italicized in English) are those in which the effects of various biological entities are tested on whole, living organisms or cells, usually animals, including humans, and plants, as opposed to a tissue extract or dead organism.

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Interferon gamma

Interferon gamma (IFNγ) is a dimerized soluble cytokine that is the only member of the type II class of interferons.

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Intron

An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.

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Iron–sulfur protein

Iron–sulfur proteins are proteins characterized by the presence of iron–sulfur clusters containing sulfide-linked di-, tri-, and tetrairon centers in variable oxidation states.

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Jean Guyon

Jean Guyon du Buisson (September 18, 1592 – May 30, 1663) was the patriarch of one of the earliest families to settle on the North shore of New France's St. Lawrence River.

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Lateral corticospinal tract

The lateral corticospinal tract (also called the crossed pyramidal tract or lateral cerebrospinal fasciculus) is the largest part of the corticospinal tract.

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Lentiviral vector in gene therapy

Lentiviral vectors in gene therapy is a method by which genes can be inserted, modified, or deleted in organisms using lentivirus.

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Lipid bilayer

The lipid bilayer (or phospholipid bilayer) is a thin polar membrane made of two layers of lipid molecules.

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Lower motor neuron

Lower motor neurons (LMNs) are motor neurons located in either the anterior grey column, anterior nerve roots (spinal lower motor neurons) or the cranial nerve nuclei of the brainstem and cranial nerves with motor function (cranial nerve lower motor neurons).

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Magnetic resonance imaging

Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body in both health and disease.

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Medullary pyramids (brainstem)

The medullary pyramids are paired white matter structures of the brainstem's medulla oblongata that contain motor fibers of the corticospinal and corticobulbar tracts – known together as the pyramidal tracts.

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Metabolism

Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical transformations within the cells of organisms.

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Mitochondrial DNA

Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, adenosine triphosphate (ATP).

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Mitochondrion

The mitochondrion (plural mitochondria) is a double-membrane-bound organelle found in most eukaryotic organisms.

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Motor neuron

A motor neuron (or motoneuron) is a neuron whose cell body is located in the motor cortex, brainstem or the spinal cord, and whose axon (fiber) projects to the spinal cord or outside of the spinal cord to directly or indirectly control effector organs, mainly muscles and glands.

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Myelin

Myelin is a lipid-rich substance that surrounds the axon of some nerve cells, forming an electrically insulating layer.

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National Center for Biotechnology Information

The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH).

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Nerve conduction study

A nerve conduction study (NCS) is a medical diagnostic test commonly used to evaluate the function, especially the ability of electrical conduction, of the motor and sensory nerves of the human body.

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Nervous system

The nervous system is the part of an animal that coordinates its actions by transmitting signals to and from different parts of its body.

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Nervous tissue

Nervous tissue or nerve tissue is the main tissue component of the two parts of the nervous system; the brain and spinal cord of the central nervous system (CNS), and the branching peripheral nerves of the peripheral nervous system (PNS), which regulates and controls bodily functions and activity.

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Neurodegeneration

Neurodegeneration is the progressive loss of structure or function of neurons, including death of neurons.

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New France

New France (Nouvelle-France) was the area colonized by France in North America during a period beginning with the exploration of the Gulf of Saint Lawrence by Jacques Cartier in 1534 and ending with the cession of New France to Great Britain and Spain in 1763.

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Nicotinamide

Nicotinamide (NAA), also known as niacinamide, is a form of vitamin B3 found in food and used as a dietary supplement and medication.

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Nikolaus Friedreich

Nikolaus Friedreich (1 July 1825 in Würzburg – 6 July 1882 in Heidelberg) was a German pathologist and neurologist, and a third generation physician in the Friedreich family.

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Nutrient

A nutrient is a substance used by an organism to survive, grow, and reproduce.

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Nystagmus

Nystagmus is a condition of involuntary (or voluntary, in rare cases) eye movement, acquired in infancy or later in life, that may result in reduced or limited vision.

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Occupational therapist

An occupational therapist works with a client to help them achieve a fulfilled and satisfied state in life through the use of "purposeful activity or interventions designed to achieve occupational outcomes which promote health, prevent injury or disability to develop, improve, sustain or restore the highest possible level of independence." A practical definition for OT can also be illustrated with the use of models such as the Occupational Performance Model (Australia), known as the OPM(A).

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Oxidative stress

Oxidative stress reflects an imbalance between the systemic manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to repair the resulting damage.

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Pathology

Pathology (from the Ancient Greek roots of pathos (πάθος), meaning "experience" or "suffering" and -logia (-λογία), "study of") is a significant field in modern medical diagnosis and medical research, concerned mainly with the causal study of disease, whether caused by pathogens or non-infectious physiological disorder.

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Peripheral nervous system

The peripheral nervous system (PNS) is one of the two components of the nervous system, the other part is the central nervous system (CNS).

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Pes cavus

Pes cavus (in medical terminology, also high instep, high arch, talipes cavus, cavoid foot, and supinated foot type) is a human foot type in which the sole of the foot is distinctly hollow when bearing weight.

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Physical examination

A physical examination, medical examination, or clinical examination (more popularly known as a check-up) is the process by which a medical professional investigates the body of a patient for signs of disease.

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Physical therapy

Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.

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Placebo

A placebo is a substance or treatment of no intended therapeutic value.

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Plantar arch

The plantar arch is a circulatory anastomosis formed from.

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Point mutation

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA.

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Polyunsaturated fatty acid

Polyunsaturated fatty acids (PUFAs) are fatty acids that contain more than one double bond in their backbone.

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Population bottleneck

A population bottleneck or genetic bottleneck is a sharp reduction in the size of a population due to environmental events (such as earthquakes, floods, fires, disease, or droughts) or human activities (such as genocide).

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Position-effect variegation

Position-effect variegation (PEV) is a variegation caused by the silencing of a gene in some cells through its abnormal juxtaposition with heterochromatin via rearrangement or transposition.

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Posterior column

The posterior columns (dorsal columns) are nerve tracts in the white matter of the spinal cord.

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Progressive disease

Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease.

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Proprioception

Proprioception, from Latin proprius, meaning "one's own", "individual", and capio, capere, to take or grasp, is the sense of the relative position of one's own parts of the body and strength of effort being employed in movement.

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Reactive oxygen species

Reactive oxygen species (ROS) are chemically reactive chemical species containing oxygen.

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Reflex

A reflex, or reflex action, is an involuntary and nearly instantaneous movement in response to a stimulus.

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Repligen

Repligen is an American company devoted to the development and production of materials used in the manufacture of biological drugs.

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Retrotope

Retrotope, Inc. commercialises the idea that fortifying food with heavy isotopes protects living cells by making bonds within the delicate molecules inside and around cells harder to break and the cells less prone to damage.

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Saccade

A saccade (French for jerk) is a quick, simultaneous movement of both eyes between two or more phases of fixation in the same direction.

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Sclerosis (medicine)

In medicine, sclerosis (also spelled sclerosus in the names of a few disorders; from Greek σκληρός "hard") is the stiffening of a structure, usually caused by a replacement of the normal organ-specific tissue with connective tissue.

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Scoliosis

Scoliosis is a medical condition in which a person's spine has a sideways curve.

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Speech

Speech is the vocalized form of communication used by humans and some animals, which is based upon the syntactic combination of items drawn from the lexicon.

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Spinal cord

The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column.

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Spinocerebellar tract

The spinocerebellar tract is a nerve tract originating in the spinal cord and terminating in the same side (ipsilateral) of the cerebellum.

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Standing frame

A standing frame (also known as a stand, stander, standing technology, standing aid, standing device, standing box, tilt table) is assistive technology that can be used by a person who relies on a wheelchair for mobility.

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Tachycardia

Tachycardia, also called tachyarrhythmia, is a heart rate that exceeds the normal resting rate.

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Transcription (biology)

Transcription is the first step of gene expression, in which a particular segment of DNA is copied into RNA (especially mRNA) by the enzyme RNA polymerase.

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Translation (biology)

In molecular biology and genetics, translation is the process in which ribosomes in the cytoplasm or ER synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus.

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Trinucleotide repeat disorder

Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes or intronsDavid W. Sanders & Clifford P. Brangwynne (2017), Nature, 546, 215–216 (08 June 2017) exceed the normal, stable threshold, which differs per gene.

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Trinucleotide repeat expansion

Trinucleotide repeat expansion, also known as triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder.

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Visual impairment

Visual impairment, also known as vision impairment or vision loss, is a decreased ability to see to a degree that causes problems not fixable by usual means, such as glasses.

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VO2 max

VO2 max (also maximal oxygen consumption, maximal oxygen uptake, peak oxygen uptake or maximal aerobic capacity) is the maximum rate of oxygen consumption measured during incremental exercise (exercise of increasing intensity).

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Wheelchair

A wheelchair, often abbreviated to just "chair", is a chair with wheels, used when walking is difficult or impossible due to illness, injury, or disability.

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References

[1] https://en.wikipedia.org/wiki/Friedreich's_ataxia

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