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Shagreen patches are present in about half of people with TSC, appearing in childhood. [11] They are areas of thick leathery skin that are dimpled like an orange peel, and pigmented, they are usually found on the lower back or nape of the neck, or scattered across the trunk or thighs.
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2.The complex is known as a tumor suppressor.
TSC1, TSC2 and TBC1D7 is a multi-protein complex also known as the TSC complex. This complex negatively regulates mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase Rheb , an essential activator of mTORC1.
Symptoms can also worsen while the patient is walking or during periods of increased stress. Other symptoms include muscle hypertrophy, neck pain, dysarthria and tremor. [2] Studies have shown that over 75% of patients report neck pain, [1] and 33% to 40% experience tremor of the head. [3]
Pharmacological inhibition of ERK1/2 restores GSK3β activity and protein synthesis levels in a model of tuberous sclerosis. [8]The defective degradation of glycogen by the autophagy-lysosome pathway is, at least in part, independent of impaired regulation of mTORC1 and is restored by the combined use of PKB/Akt and mTORC1 pharmacological inhibitors.
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The cluster of infantile spasms in TSC was discovered to be preceded by a focal EEG discharge. [51] 1985 Magnetic resonance imaging (MRI, invented 1980) was first used in TSC to identify affected regions in the brain of a girl with tuberous sclerosis. [52] 1987 MR was judged superior to CT imaging for both sensitivity and specificity.
Torticollis can also be caused by problems with bones, muscles, or the spine in the neck, leading to difficulty moving the head and neck normally. [25] Knowing about the sternocleidomastoid muscle and how it works is crucial for doctors to diagnose and treat torticollis correctly, so they can find and fix the problem causing it.
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