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Items: 20

1.

Psychiatric

MedGen UID:
851585
Concept ID:
C1548428
Finding; Intellectual Product
2.

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
3.

Parkinsonism

Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. [from HPO]

MedGen UID:
504793
Concept ID:
CN001191
Finding
4.

Behavioral abnormality

An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. [from HPO]

MedGen UID:
425007
Concept ID:
CN000665
Finding
5.

Dystonia 12

The spectrum of ATP1A3-related neurologic disorders includes rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. While early reports emphasized the distinctness of RDP and AHC, it is increasingly evident that these conditions represent a spectrum related to mutation of ATP1A3. Because only ten individuals from three families and one individual with a de novo pathogenic variant have been described with CAPOS syndrome to date, its phenotype is less defined; however, some features overlap with RDP and AHC as well. RDP is characterized by abrupt onset of dystonia with parkinsonism (primarily bradykinesia and postural instability); a clear rostrocaudal (face>arm>leg) topological gradient of involvement; bulbar involvement; and absence of response to an adequate trial of L-dopa therapy. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Anxiety, depression, and seizures have been reported. Age of onset is four to 55 years. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits develop in the majority of those affected, including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS syndrome (a mnemonic for cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss) is characterized by episodes of ataxic encephalopathy and/or weakness after a febrile illness. Onset is between ages six months and five years. Some acute symptoms resolve; disease progression and severity vary. [from GeneReviews]

MedGen UID:
358384
Concept ID:
C1868681
Disease or Syndrome
6.

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:
140732
Concept ID:
C0393593
Disease or Syndrome
7.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
8.

Depression

MedGen UID:
881016
Concept ID:
CN236657
Disease or Syndrome
9.

Substance abuse

MedGen UID:
880105
Concept ID:
C2364059
Finding
10.

Parkinson disease, late-onset

Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [from GeneReviews]

MedGen UID:
463618
Concept ID:
C3160718
Disease or Syndrome
11.

Anxiety

MedGen UID:
409544
Concept ID:
C1963064
Finding
12.

Anxiety

Human personality is shaped by genetic and environmental factors, and evidence suggests that the genetic component is highly complex, polygenic, and epistatic. Genetic factors are thought to contribute to 40 to 60% of trait variance. Molecular genetics has tried to identify specific genes for quantitative traits, called quantitative trait loci (QTLs). The QTL concept suggests that complex personality traits or dimensions are not attributable to single genes, but to multiple interacting genes (Reif and Lesch, 2003). Fullerton et al. (2003) stated that psychologists were in agreement that the wide variation in human personalities can be explained by a small number of personality factors, including neuroticism (a measure of emotional stability), which manifests at one extreme as anxiety, depression, moodiness, low self-esteem, and diffidence. They cited a number of studies that had described a relationship between high scores on measures of neuroticism and major depressive disorder. They also noted that theoretical studies had suggested that large samples of randomly ascertained sibs could be used to ascertain phenotypically extreme individuals and thereby increase power to detect genetic linkage in complex traits. See also panic disorder (PAND1; 167870), which is a subtype of anxiety disorder. [from OMIM]

MedGen UID:
335849
Concept ID:
C1842981
Disease or Syndrome; Mental or Behavioral Dysfunction
13.

Depression

An emotional state characterized by feelings of sadness, emptiness, and/or tearfulness.(AE) [from NCI_NICHD]

MedGen UID:
137999
Concept ID:
C0344315
Finding
14.

Asymptomatic

The finding of no indications of a particular disease or injury. [from NCI]

MedGen UID:
65413
Concept ID:
C0231221
Finding
15.

Mental disorder

Mental disorders include a wide range of problems, including. -Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias. -Bipolar disorder. -Depression. -Mood disorders. -Personality disorders. -Psychotic disorders, including schizophrenia. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders. .  [from MedlinePlus]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
16.

Parkinson disease

Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [from GeneReviews]

MedGen UID:
10590
Concept ID:
C0030567
Disease or Syndrome
17.

Movement disorders

Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. . Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.  [from MedlinePlus]

MedGen UID:
10113
Concept ID:
C0026650
Disease or Syndrome
18.

Dystonia, adult-onset

MedGen UID:
199835
Concept ID:
C0752197
Disease or Syndrome
19.

Dystonia 27

Dystonia-27 is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015). [from OMIM]

MedGen UID:
834051
Concept ID:
CN231151
Disease or Syndrome
20.

Dystonia 23

MedGen UID:
761274
Concept ID:
C3538999
Disease or Syndrome
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