Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature [PDF]
Brain SciencesWe report a case of hereditary sensory and autonomic neuropathy presenting with childhood-onset symmetric distally predominant limb hypoesthesia to tactile, thermal, and painful stimuli.
Cosmanna Ragucci +9 more
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Case report: Hereditary sensory autonomic neuropathy presenting as bifid deformity to the tongue [PDF]
Frontiers in Dental Medicine, 2023 Hereditary sensory autonomic neuropathy (HSAN) is a group of rare genetic disorders in which affected patients have a diminished capacity to feel pain.
Kelsey O’Hagan-Wong +3 more
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Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome [PDF]
Annals of Clinical and Translational NeurologyUniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal‐recessive diseases. We present the case of a 3‐year‐old male with a blended phenotype of TECPR2‐related hereditary sensory and autonomic neuropathy (HSAN9) and ...
Umar Zubair +7 more
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Saudi Journal of Anaesthesia, 2011 Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation.
Ergül Yakup +2 more
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Hereditary sensory autonomic neuropathy type VI in the age of genetic testing [PDF]
Annals of the Child Neurology SocietyBackground Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene.
Lekshmi Peringassery Sateesh +5 more
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A rare case of hereditary sensory and autonomic neuropathy type II
Clinical Case Reports, 2023 We describe the follow‐up of a 29‐year‐old man diagnosed with hereditary sensory and autonomic neuropathy type II, including the different complications that presented since his childhood.
Elmira Mamytova +6 more
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Hereditary Sensory and Autonomic Neuropathy V: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated ...
GK Pallavi Urs +3 more
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Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy [PDF]
Annals of Indian Academy of NeurologyAR Nagaraj +10 more
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Glycogen synthase kinase 3ß functions as a positive effector in the WNK signaling pathway. [PDF]
PLoS ONE, 2018 The with no lysine (WNK) protein kinase family is conserved among many species. Some mutations in human WNK gene are associated with pseudohypoaldosteronism type II, a form of hypertension, and hereditary sensory and autonomic neuropathy type 2A.
Atsushi Sato, Hiroshi Shibuya
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Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
Indian Journal of Paediatric Dermatology, 2021 Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout +3 more
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