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MedGen for PubMed (Select 22722545)

Items: 1 to 20 of 44

1.

West syndrome

X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives. Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures. Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.
[from GHR]

MedGen UID:
11519
Concept ID:
C0037769
Disease or Syndrome; Finding
2.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
3.

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
4.

Dystonia

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements and/or postures. Dystonic movements are typically patterned and twisting, and may be associated with tremor. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia can be classified clinically according to age of onset, body distribution, temporal pattern, and associated features (i.e., isolated dystonia – in which it is the only motor feature except tremor; combined dystonia – in which another movement disorder is present; or complex dystonia – in which other neurologic or systemic manifestations are present). [from GeneReviews]

MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
5.

autism

MedGen UID:
833591
Concept ID:
CN229531
Disease or Syndrome
6.

Infantile spasms

MedGen UID:
807615
Concept ID:
CN220161
Finding
7.

Epileptic encephalopathy, early infantile, 21

MedGen UID:
786095
Concept ID:
CN188266
Disease or Syndrome
8.

CNS hypomyelination

Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. [from HPO]

MedGen UID:
505537
Concept ID:
CN003092
Finding
9.

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. [from HPO]

MedGen UID:
504804
Concept ID:
CN001220
Finding
10.

Autism

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). [from HPO]

MedGen UID:
504569
Concept ID:
CN000674
Finding
11.

Epileptic encephalopathy

MedGen UID:
500863
Concept ID:
CN176791
Finding
12.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
13.

Telangiectasia

MedGen UID:
369777
Concept ID:
C1963248
Finding
14.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
15.

Hypertrichosis congenital generalized X-linked

MedGen UID:
341002
Concept ID:
C1855900
Disease or Syndrome
16.

Dystonia 1

DYT1 early-onset primary dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing of a foot, leg, or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present, except for postural arm tremor. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign. [from GeneReviews]

MedGen UID:
338823
Concept ID:
C1851945
Disease or Syndrome
17.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
18.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
19.

Progressive encephalopathy

MedGen UID:
333129
Concept ID:
C1838578
Finding
20.

Early infantile epileptic encephalopathy

MedGen UID:
97959
Concept ID:
C0393706
Disease or Syndrome
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