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Mutations in five genes have been shown to cause dopamine-responsive dystonia. These mutations, according to a review published in 2021, are associated with the following conditions: [1] Autosomal dominant GTP cyclohydrolase I deficiency (autosomal dominant Segawa syndrome) Autosomal recessive GTP cyclohydrolase I deficiency
This gait pattern is reminiscent of a marionette. Hypertonia in the legs, hips and pelvis means these areas become flexed to various degrees, giving the appearance of crouching, while tight adductors produce extreme adduction, presented by knees and thighs hitting, or sometimes even crossing, in a scissors-like movement while the opposing muscles, the abductors, become comparatively weak from ...
Spastic diplegia is a form of cerebral palsy (CP) that is a chronic neuromuscular condition of hypertonia and spasticity in the muscles of the lower extremities of the human body, manifested as an especially high and constant "tightness" or "stiffness", [1] [2] usually in the legs, hips and pelvis.
Mayo Clinic Proceedings is a monthly peer-reviewed medical journal published by Elsevier and sponsored by the Mayo Clinic. It covers the field of general internal medicine. The journal was established in 1926 as the Proceedings of the Staff Meetings of the Mayo Clinic and obtained its current name in 1964.
Gait abnormality is a deviation from normal walking ().Watching a patient walk is an important part of the neurological examination. Normal gait requires that many systems, including strength, sensation and coordination, function in an integrated fashion.
Parkinson's Disease causes constipation and gastric dysmotility that is severe enough to endanger comfort and even health. [26] A factor in this is the appearance of Lewy bodies and Lewy neurites even before these affect the functioning of the substantia nigra in the neurons in the enteric nervous system that control gut functions. [27]
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A unilateral spastic gait presents with the affected leg held in extension and plantar flexion. The arm on the same side is often flexed. The individual circumducts the affected leg as they swing it during walking. [1] A bilateral spastic gait may appear stiff-legged or scissoring.
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