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Items: 17

1.

Dyskinesia

Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES. [from MeSH]

MedGen UID:
8514
Concept ID:
C0013384
Finding
2.

Dyskinesia

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [from HPO]

MedGen UID:
506509
Concept ID:
CN117552
Finding
3.

Tardive dyskinesia

Tardive dyskinesia is a debilitating motor disorder manifest as hyperkinetic, involuntary, repetitive movements predominantly of the orofacial region. It is a complication of treatment with so-called typical antipsychotic or neuroleptic agents, such as chlorpromazine or haloperidol, and is estimated to occur in 20 to 30% of chronic schizophrenics on long-term treatment (Thelma et al., 2008). [from OMIM]

MedGen UID:
151939
Concept ID:
C0686347
Finding
4.

Tardive dyskinesia

MedGen UID:
830706
Concept ID:
CN225400
Finding
5.

Axenfeld-Rieger syndrome type 1

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies have also been associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). See 109120 for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities. Axenfeld-Rieger anomaly has also been observed in some patients with small vessel disease of the brain, see 607595. A closely related ocular disorder, iridogoniodysgenesis, can also be caused by mutation in the FOXC1 and PITX2 genes; see IRID1 (601631) and IRID2 (137600), respectively. Genetic Heterogeneity of Axenfeld-Rieger Syndrome Linkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; 601499). A third form of Axenfeld-Rieger syndrome (RIEG3; 602482) is caused by mutation in the FOXC1 gene (601090) on chromosome 6p25. [from OMIM]

MedGen UID:
811487
Concept ID:
C3714873
Congenital Abnormality; Disease or Syndrome
6.

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
7.

Involuntary movements

Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. [from HPO]

MedGen UID:
428446
Concept ID:
CN003806
Finding
8.

Rieger syndrome

Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye. About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness. The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth. Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.
[from GHR]

MedGen UID:
78558
Concept ID:
C0265341
Finding; Finding
9.

Robinow syndrome

Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly); genital abnormalities (in males: micropenis/webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora); dysmorphic facial features; dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth); bilobed tongue; occasional prenatal macrocephaly with postnatal decrease in head circumference. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defect, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by DVL1 pathogenic variants, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above. [from GeneReviews]

MedGen UID:
78535
Concept ID:
C0265205
Congenital Abnormality; Disease or Syndrome
10.

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
11.

Duane syndrome

Duane syndrome is a strabismus syndrome characterized by congenital non-progressive horizontal ophthalmoplegia (inability to move the eyes) primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Most individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head position to align the eyes, and thus can preserve single binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. Approximately 70% of individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). [from GeneReviews]

MedGen UID:
4413
Concept ID:
C0013261
Finding
12.

Asterixis

A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. [from HPO]

MedGen UID:
115916
Concept ID:
C0232766
Sign or Symptom
13.

Hemiballismus

Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. [from HPO]

MedGen UID:
67443
Concept ID:
C0221169
Finding; Finding
14.

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:
66079
Concept ID:
C0242422
Finding
15.

Abnormality of the basal ganglia

Abnormality of the basal ganglia. [from HPO]

MedGen UID:
14035
Concept ID:
C0004782
Finding
16.

Movement disorder

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
Finding
17.

Disorder of the central nervous system

A structural abnormality of the central nervous system. [from HPO]

MedGen UID:
3306
Concept ID:
C0007682
Finding
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