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MCID: OCL069
MIFTS: 49
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Ocular Motor Apraxia
Categories:
Eye diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ocular Motor Apraxia:
Name: Ocular Motor Apraxia
58
Characteristics:Orphanet epidemiological data:60
ocular motor apraxia, cogan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
ocular movement dysfunction improves with age HPO:33Classifications:
ICD10:
34
35
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NIH Rare Diseases
:
54
Oculomotor apraxia Cogan type (COMA) is an eye condition characterized by a defect in side-to-side (horizontal) eye movements. Because of this, most patients with COMA have to turn their head in order to follow objects in side gaze. Typically, up-to-down (vertical) eye movements are unaffected. Symptoms usually improve throughout the childhood and teenage years. COMA can also be associated with mild developmental delay and speech difficulties. Individuals with COMA may also have kidney disorders and underdevelopment of the part of cerebellum that separates the left and right hemisphere of the brain (cerebellar vermis). When other symptoms occur, COMA may be a symptom of other disorders, such as nephronophthisis or Joubert syndrome. In many instances, the cause of COMA is not known; however, researchers suspect that it is inherited in an autosomal recessive inheritance pattern. Treatment for this condition is focused on managing the signs and symptoms in each individual.
MalaCards based summary : Ocular Motor Apraxia, also known as coma, is related to apraxia and ataxia-telangiectasia, and has symptoms including seizures, tremor and back pain. An important gene associated with Ocular Motor Apraxia is DHX30 (DExH-Box Helicase 30), and among its related pathways/superpathways is DNA Damage. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are nephronophthisis and oculomotor apraxia OMIM : 58 Congenital oculomotor apraxia, first reported by Cogan (1952), is characterized by (1) defective or absent horizontal voluntary eye movements, and (2) defective or absent horizontal ocular attraction movements. Oculomotor apraxia occurs in ataxia-telangiectasia (208900). Also see ataxia-oculomotor apraxia syndrome (208920; 606002). Oculomotor apraxia has been observed in the neuronopathic form of Gaucher disease (type III; 231000) (Erikson and Wahlberg, 1985; Gross-Tsur et al., 1989). (257550) MedlinePlus : 44 A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke NINDS : 55 A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands. Wikipedia : 77 Oculomotor apraxia (OMA), is the absence or defect of controlled, voluntary, and purposeful eye... more... |
Human phenotypes related to Ocular Motor Apraxia:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:257550UMLS symptoms related to Ocular Motor Apraxia:seizures, tremor, back pain, ophthalmoparesis, pain, headache, lethargy, syncope, excessive daytime somnolence, chronic pain, sciatica, vertigo/dizziness, sleeplessness, central nervous system signs and symptoms, symptoms, clouded consciousness, sluggishness, dizziness, transient alteration of awareness, other alteration of consciousness |
Drugs for Ocular Motor Apraxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
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MalaCards organs/tissues related to Ocular Motor Apraxia:42
Brain,
Eye,
Liver,
Thyroid,
Kidney,
Cerebellum,
Heart
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Articles related to Ocular Motor Apraxia:(show top 50) (show all 3092)
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Genes related to Ocular Motor Apraxia (3 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ocular Motor Apraxia:6 (show all 14)
Copy number variations for Ocular Motor Apraxia from CNVD:7
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Search
GEO
for disease gene expression data for Ocular Motor Apraxia.
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Molecular functions related to Ocular Motor Apraxia according to GeneCards Suite gene sharing:
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