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This disorder has not yet been found to be associated with any other neurologic disease or cognitive disability, and currently, no cures nor means to improve signs or symptoms have been found. [2] [5] The congenital mirror movements begin in infancy and persist throughout the patient's life, often with very little improvement, or deterioration. [3]
Ulnar dimelia, showing clenched position X-ray of 2-month-old female child with ulnar dimelia. Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly.
Antley–Bixler syndrome presents itself at birth or prenatally. [2] Features of the disorder include brachycephaly (flat forehead), craniosynostosis (complete skull-joint closure) of both coronal and lambdoid sutures, facial hypoplasia (underdevelopment); bowed ulna (forearm bone) and femur (thigh bone), synostosis of the radius (forearm bone), humerus (upper arm bone) and trapezoid (hand ...
Movement disorders are clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements, unrelated to weakness or spasticity. [1] Movement disorders present with extrapyramidal symptoms and are caused by basal ganglia disease . [ 2 ]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Axial CT image showing situs inversus (liver and IVC on the left, spleen and aorta on the right) in a patient with Kartagener syndrome. Situs inversus has an autosomal recessive pattern of inheritance. Situs inversus is generally an autosomal recessive genetic condition, although it can be X-linked or found in identical "mirror image" twins. [4]
Bobble-head doll syndrome is a rare neurological movement disorder in which patients, usually children around age 3, begin to bob their head and shoulders forward and back, or sometimes side-to-side, involuntarily, in a manner reminiscent of a bobblehead doll.
Mutations on this gene are responsible for congenital muscular dystrophy (CMD), overlapping syndromes related to mutation have also been reported. It is located on the long arm of the chromosome 1 (1q21-q22) and encodes the proteins lamin A and lamin C. [ 1 ] These are structural proteins of intermediate filaments that provide stability and ...