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GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum.
The ICD-10 Clinical Modification (ICD-10-CM) is a set of diagnosis codes used in the United States of America. [1] It was developed by a component of the U.S. Department of Health and Human services, [ 2 ] as an adaption of the ICD-10 with authorization from the World Health Organization .
Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
Aceruloplasminemia has an autosomal recessive pattern of inheritance.. Aceruloplasminemia is caused by a mutation (a five-base pair insertion in exon 7 [3]) in the CP gene, which provides instructions for making a protein called ceruloplasmin, a protein involved in iron transport and processing.
Hypokinetic movement disorders fall into one of four subcategories: akinesia (lack of movement), hypokinesia (reduced amplitude of movements), bradykinesia (slow movement), and rigidity. In primary movement disorders, the abnormal movement is the primary manifestation of the disorder.
Sarcopenia (ICD-10-CM code M62.84 [1]) is a type of muscle loss that occurs with aging and/or immobility. It is characterized by the degenerative loss of skeletal muscle mass, quality, and strength. The rate of muscle loss is dependent on exercise level, co-morbidities, nutrition and other factors.
Anhedonia is a diverse array of deficits in hedonic function, including reduced motivation or ability to experience pleasure. [1] While earlier definitions emphasized the inability to experience pleasure, anhedonia is currently used by researchers to refer to reduced motivation, reduced anticipatory pleasure (wanting), reduced consummatory pleasure (liking), and deficits in reinforcement learning.