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1.

Stroke

A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. Mini-strokes or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are . -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
2.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
3.

Edema

Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body. Causes of edema include. -Eating too much salt. -Sunburn. -Heart failure. -Kidney disease. -Liver problems from cirrhosis. -Pregnancy. -Problems with lymph nodes, especially after mastectomy. -Some medicines. -Standing or walking a lot when the weather is warm. To keep swelling down, your health care provider may recommend keeping your legs raised when sitting, wearing support stockings, limiting how much salt you eat, or taking a medicine called a diuretic - also called a water pill. .  [from MedlinePlus]

MedGen UID:
4451
Concept ID:
C0013604
Sign or Symptom
4.

Cerebral edema

Abnormal accumulation of fluid in the brain. [from HPO]

MedGen UID:
2337
Concept ID:
C0006114
Pathologic Function
5.

Acidosis

Abnormal acid accumulation or depletion of base. [from HPO]

MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
6.

Mitochondrial myopathy

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

MedGen UID:
505582
Concept ID:
CN003376
Finding
7.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
8.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
9.

Stroke-like episodes

MedGen UID:
346558
Concept ID:
C1857287
Finding
10.

Encephalopathy, mitochondrial

MedGen UID:
342221
Concept ID:
C1852373
Disease or Syndrome
11.

Stroke

MedGen UID:
340407
Concept ID:
C1849743
12.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
13.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
14.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
15.

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000). [from OMIM]

MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
16.

Mitochondrial myopathy

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many individuals with a mutation of mtDNA display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category, which is well-illustrated by the overlapping spectrum of disease phenotypes (including mitochondrial recessive ataxia syndrome (MIRAS) resulting from mutation of the nuclear gene POLG, which has emerged as a major cause of mitochondrial disease. Common clinical features of mitochondrial disease – whether involving a mitochondrial or nuclear gene – include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Common central nervous system findings are fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity. A high incidence of mid- and late pregnancy loss is a common occurrence that often goes unrecognized. [from GeneReviews]

MedGen UID:
56484
Concept ID:
C0162670
Congenital Abnormality; Disease or Syndrome
17.

Myopathy

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.  [from MedlinePlus]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
18.

Lactic acidosis

Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE. [from MeSH]

MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
19.

Dementia

Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
99229
Concept ID:
C0497327
Finding; Mental or Behavioral Dysfunction
20.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
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