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Items: 1 to 20 of 53

1.

Seizure Disorders

Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
2.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
3.

Benign adult familial myoclonic epilepsy

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. [from ORDO]

MedGen UID:
798512
Concept ID:
CN206220
Disease or Syndrome
4.

Myoclonus

Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. [from HPO]

MedGen UID:
504806
Concept ID:
CN001224
Finding
5.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
6.

Nystagmus, myoclonic

MedGen UID:
326918
Concept ID:
C1839579
Disease or Syndrome
7.

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
8.

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
9.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
10.

Epilepsies, Myoclonic

A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.). [from MeSH]

MedGen UID:
4988
Concept ID:
C0014550
Disease or Syndrome
11.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
12.

Cortical myoclonus

MedGen UID:
830707
Concept ID:
CN225407
Finding
13.

Tremor

MedGen UID:
776582
Concept ID:
C2364114
Finding
14.

Gliosis

The presence of gliosis in the central nervous system. [from HPO]

MedGen UID:
505139
Concept ID:
CN001968
Finding
15.

Cerebellar atrophy

Atrophy (wasting) of the cerebellum. [from HPO]

MedGen UID:
504781
Concept ID:
CN001166
Finding
16.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
17.

Dementia

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. [from HPO]

MedGen UID:
504574
Concept ID:
CN000683
Finding
18.

EMG: myotonic runs

Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). [from HPO]

MedGen UID:
500965
Concept ID:
CN003370
Finding
19.

EMG: axonal abnormality

Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. [from HPO]

MedGen UID:
500956
Concept ID:
CN003141
Finding
20.

EMG: neuropathic changes

The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). [from HPO]

MedGen UID:
500953
Concept ID:
CN003105
Finding
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