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Kearns–Sayre syndrome

Index Kearns–Sayre syndrome

Kearns–Sayre syndrome (KSS) is a mitochondrial myopathy with a typical onset before 20 years of age. [1]

56 relations: Adenosine diphosphate, Adenosine triphosphate, Anaerobic respiration, Artificial cardiac pacemaker, Atrioventricular block, Base pair, Blood sugar level, Bradycardia, Cerebellar ataxia, Cerebrospinal fluid, Chromosome, Chronic progressive external ophthalmoplegia, Coenzyme Q10, Diabetes mellitus, Electrolyte, Electron transport chain, Endocrinology, Exercise intolerance, First-degree atrioventricular block, Fourth nerve palsy, Fundus (eye), Gömöri trichrome stain, Gene, Genome, Growth hormone deficiency, Hearing loss, Heart block, Heteroplasmy, Hyperaldosteronism, Hypoparathyroidism, Lactic acid, Macula of retina, Medical sign, Microscopy, Mitochondrial disease, Mitochondrial DNA, Mitochondrial myopathy, Myotonic dystrophy, Neuro-ophthalmology, Oculomotor nerve palsy, Ophthalmoparesis, Oxidative phosphorylation, Pearson syndrome, Polymerase chain reaction, Ptosis (eyelid), Pyruvic acid, Retina, Retinal pigment epithelium, Retinitis pigmentosa, Ribosomal RNA, ..., Sixth nerve palsy, Syncope (medicine), Third-degree atrioventricular block, Thyroid function tests, Transfer RNA, Visual field. Expand index (6 more) »

Adenosine diphosphate

Adenosine diphosphate (ADP), also known as adenosine pyrophosphate (APP), is an important organic compound in metabolism and is essential to the flow of energy in living cells.

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Adenosine triphosphate

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

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Anaerobic respiration

Anaerobic respiration is respiration using electron acceptors other than molecular oxygen (O2).

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Artificial cardiac pacemaker

A pacemaker (or artificial pacemaker, so as not to be confused with the heart's natural pacemaker) is a medical device that generates electrical impulses delivered by electrodes to contract the heart muscles and regulate the electrical conduction system of the heart.

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Atrioventricular block

Atrioventricular block (AV block) is a type of heart block in which the conduction between the atria and ventricles of the heart is impaired.

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Base pair

A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.

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Blood sugar level

The blood sugar level, blood sugar concentration, or blood glucose level is the amount of glucose present in the blood of humans and other animals.

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Bradycardia

Bradycardia is a condition wherein an individual has a very slow heart rate, typically defined as a resting heart rate of under 60 beats per minute (BPM) in adults.

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Cerebellar ataxia

Cerebellar ataxia is a form of ataxia originating in the cerebellum.

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Cerebrospinal fluid

Cerebrospinal fluid (CSF) is a clear, colorless body fluid found in the brain and spinal cord.

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Chromosome

A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.

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Chronic progressive external ophthalmoplegia

Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia (PEO), is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows.

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Coenzyme Q10

Coenzyme Q10, also known as ubiquinone, ubidecarenone, coenzyme Q, and abbreviated at times to CoQ10, CoQ, or Q10 is a coenzyme that is ubiquitous in animals and most bacteria (hence the name ubiquinone).

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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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Electrolyte

An electrolyte is a substance that produces an electrically conducting solution when dissolved in a polar solvent, such as water.

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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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Endocrinology

Endocrinology (from endocrine + -ology) is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions known as hormones.

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Exercise intolerance

Exercise intolerance is a condition of inability or decreased ability to perform physical exercise at what would be considered to be the normally expected level or duration.

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First-degree atrioventricular block

First-degree atrioventricular block (AV block), or PR prolongation, is a disease of the electrical conduction system of the heart in which the PR interval is lengthened beyond 0.20 seconds.

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Fourth nerve palsy

Fourth cranial nerve palsy also known as Trochlear nerve palsy, is a condition affecting Cranial Nerve 4 (IV), the Trochlear Nerve, which is one of the Cranial Nerves that causes weakness or paralysis to the Superior Oblique Muscle that it innervates.

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Fundus (eye)

The fundus of the eye is the interior surface of the eye opposite the lens and includes the retina, optic disc, macula, fovea, and posterior pole.

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Gömöri trichrome stain

Gömöri trichrome stain is a histological stain used on muscle tissue.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Genome

In the fields of molecular biology and genetics, a genome is the genetic material of an organism.

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Growth hormone deficiency

Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH).

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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 block

Heart block is a disease or inherited condition that causes a fault within the heart's natural pacemaker due to some kind of obstruction (or "block") in the electrical conduction system of the heart.

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Heteroplasmy

Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual.

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Hyperaldosteronism

Hyperaldosteronism, also aldosteronism, is a medical condition wherein too much aldosterone is produced by the adrenal glands, which can lead to lowered levels of potassium in the blood (hypokalemia) and increased hydrogen ion excretion (alkalosis).

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Hypoparathyroidism

Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone.

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Lactic acid

Lactic acid is an organic compound with the formula CH3CH(OH)COOH.

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Macula of retina

The macula or macula lutea is an oval-shaped pigmented area near the center of the retina of the human eye and some other animalian eyes.

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Medical sign

A medical sign is an objective indication of some medical fact or characteristic that may be detected by a patient or anyone, especially a physician, before or during a physical examination of a patient.

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Microscopy

Microscopy is the technical field of using microscopes to view objects and areas of objects that cannot be seen with the naked eye (objects that are not within the resolution range of the normal eye).

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Mitochondrial disease

Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell.

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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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Mitochondrial myopathy

Mitochondrial myopathies are types of myopathies associated with mitochondrial disease.

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Myotonic dystrophy

Myotonic dystrophy is a long term genetic disorder that affects muscle function.

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Neuro-ophthalmology

Neuro-ophthalmology is an academically-oriented subspecialty that merges the fields of neurology and ophthalmology, often dealing with complex systemic diseases that have manifestations in the visual system.

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Oculomotor nerve palsy

Oculomotor nerve palsy or third nerve palsy is an eye condition resulting from damage to the third cranial nerve or a branch thereof.

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Ophthalmoparesis

Ophthalmoparesis or ophthalmoplegia refers to weakness (-paresis) or paralysis (-plegia) of one or more extraocular muscles which are responsible for eye movements.

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Oxidative phosphorylation

Oxidative phosphorylation (or OXPHOS in short) (UK, US) is the metabolic pathway in which cells use enzymes to oxidize nutrients, thereby releasing energy which is used to produce adenosine triphosphate (ATP).

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Pearson syndrome

Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction.

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Polymerase chain reaction

Polymerase chain reaction (PCR) is a technique used in molecular biology to amplify a single copy or a few copies of a segment of DNA across several orders of magnitude, generating thousands to millions of copies of a particular DNA sequence.

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Ptosis (eyelid)

Ptosis (/ˈtoʊsɪs/) is a drooping or falling of the upper eyelid.

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Pyruvic acid

Pyruvic acid (CH3COCOOH) is the simplest of the alpha-keto acids, with a carboxylic acid and a ketone functional group.

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Retina

The retina is the innermost, light-sensitive "coat", or layer, of shell tissue of the eye of most vertebrates and some molluscs.

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Retinal pigment epithelium

The pigmented layer of retina or retinal pigment epithelium (RPE) is the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells.

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Retinitis pigmentosa

Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision.

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Ribosomal RNA

Ribosomal ribonucleic acid (rRNA) is the RNA component of the ribosome, and is essential for protein synthesis in all living organisms.

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Sixth nerve palsy

Sixth nerve palsy, or abducens nerve palsy, is a disorder associated with dysfunction of cranial nerve VI (the abducens nerve), which is responsible for causing contraction of the lateral rectus muscle to abduct (i.e., turn out) the eye.

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Syncope (medicine)

Syncope, also known as fainting, is a loss of consciousness and muscle strength characterized by a fast onset, short duration, and spontaneous recovery.

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Third-degree atrioventricular block

Third-degree atrioventricular block (AV block), also known as complete heart block, is a medical condition in which the nerve impulse generated in the sinoatrial node (SA node) in the atrium of the heart does not propagate to the ventricles.

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Thyroid function tests

Thyroid function tests (TFTs) is a collective term for blood tests used to check the function of the thyroid.

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Transfer RNA

A transfer RNA (abbreviated tRNA and formerly referred to as sRNA, for soluble RNA) is an adaptor molecule composed of RNA, typically 76 to 90 nucleotides in length, that serves as the physical link between the mRNA and the amino acid sequence of proteins.

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Visual field

The visual field is the "spatial array of visual sensations available to observation in introspectionist psychological experiments".

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Redirects here:

Kearn-Sayre syndrome, Kearns-Sayer syndrome, Kearns-Sayre syndrome, Kearns-sayer syndrome, Kearns-sayre syndrome, Oculocraniosomatic syndrome, Ophtalmoplegia-plus syndrome.

References

[1] https://en.wikipedia.org/wiki/Kearns–Sayre_syndrome

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