Results 21 to 30 of about 4,617 (234)
Erythromelalgia: a cutaneous manifestation of neuropathy? [PDF]
Anais Brasileiros de Dermatologia, 2018 : The low prevalence of erythromelalgia, classified as an orphan disease, poses diagnostic and therapeutic difficulties. The aim of this review is to be an update of the specialized bibliography.
María Bibiana Leroux
doaj +1 more source
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy [PDF]
, 2019 Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons.
Asselbergh, B +10 more
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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. [PDF]
, 2013 To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this ...
Blake, J +10 more
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Pathological classification of equine recurrent laryngeal neuropathy [PDF]
, 2018 Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
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Congenital insensitivity to pain: Case report of a rare entity
Indian Journal of Paediatric Dermatology, 2018 Hereditary sensory and autonomic neuropathies (HSANs) are a group of disorders characterized by insensitivity to noxious stimuli and autonomic dysfunction, associated with pathological abnormalities of the peripheral nerves.
Swati Dahiya +2 more
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Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma. [PDF]
, 2017 BACKGROUND: Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic
A Kumar +18 more
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Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]
, 2007 PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal +1 more
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Anais Brasileiros de Dermatologia, 2016 Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's ...
Monique Coelho Dalapicola +2 more
doaj +1 more source
Pathophysiology, 2022 Pain and nociception are different phenomena. Nociception is the result of complex activity in sensory pathways. On the other hand, pain is the effect of interactions between nociceptive processes, and cognition, emotions, as well as the social context ...
Marco Cascella +6 more
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Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. [PDF]
PLoS Genetics, 2016 Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries ...
Deborah Chiabrando +13 more
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