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Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance.
These are labelled in dynamical genetics as dynamic mutations. [1] Triplet expansion is caused by slippage during DNA replication, also known as "copy choice" DNA replication. [ 2 ] Due to the repetitive nature of the DNA sequence in these regions, 'loop out' structures may form during DNA replication while maintaining complementary base ...
1 rotatores colli Torso, Back, right/left transverse process: spinous process: spinous process: posterior branch: 0 1 interspinales lumborum 1-4 Torso, Back, right/left spinous process: spinous process: posterior rami of spinal nerves: extends, flexes, and rotates vertebral column 8 1 interspinales thoracis 1-3 Torso, Back, right/left spinous ...
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.
Gowers's sign is a medical sign that indicates weakness of the proximal muscles, namely those of the lower limb. The sign describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength. It is named after William Richard Gowers. [1] [2]
A rapidly expanding field in genetic counseling is cardiovascular genetics. More than 1 in 200 people have an inherited cardiovascular disease. Hereditary cardiac conditions range from common diseases, such as high cholesterol and coronary artery disease, to rare diseases like Long QT Syndrome, hypertrophic cardiomyopathy, and vascular diseases ...
By binding to PD-1, Libtayo has been shown to block cancer cells from using the PD-1 pathway to suppress T-cell activation. Libtayo has been approved by regulatory authorities in more than 30 countries in one or more indications, including for certain adult patients with advanced basal cell carcinoma (BCC), advanced CSCC, advanced non-small ...
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.