A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Pain due to a stimulus that does not normally provoke pain.

Inability to elicit tendon reflexes in the lower limbs.

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.

Reduction of total body weight.

Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.

Infrequent or difficult evacuation of feces.

Difficulty in swallowing.

Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

The presence of multiple diverticula of the colon.

A hole (perforation) in the wall of the intestine.

A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.

Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.

Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.

A deficiency in the intake of energy and nutrients.

Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.

Repeated episodes of diarrhea separated by periods without diarrhea.

The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.

Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.

Impaired ability to absorb one or more nutrients from the intestine.

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Decreased ability to perceive touch.

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

Absence of neurologic reflexes such as the knee-jerk reaction.

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.

An abnormal reduction in sensation in the distal portions of the extremities.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.

A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.

Reduced strength of the musculature of the distal extremities.

Muscular atrophy affecting muscles in the distal portions of the extremities.

An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.

The presence of multiple deletions of mitochondrial DNA (mtDNA).

An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.

An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.

An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.

Concentration of thymidine in the blood circulation above the normal range.

Concentration of 2-deoxyuridine in the blood circulation is above the normal range.

Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.

Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).\n\nWhen the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of cell structures called mitochondria and are known as ragged-red fibers.\n\nAlthough muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, and depression.\n\nProgressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.

Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.