Results 11 to 20 of about 744 (162)

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature

open access: yesBrain Sciences
We 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
doaj   +2 more sources

Hereditary sensory autonomic neuropathy and anaesthesia - a case report

open access: yesIndian Journal of Anaesthesia, 2007
The hereditary sensory and autonomic neuropathies are a rare group of disorders characterized by progressive loss of function that predominantly affects the peripheral sensory nerves.
Nandini Dave   +2 more
doaj   +1 more source

Hereditary sensory neuropathy type I [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2008
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Auer-Grumbach Michaela
doaj   +2 more sources

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features.
Maja Tarailo‐Graovac   +12 more
doaj   +2 more sources

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family

open access: yesHuman Genome Variation
Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties,
Asad Munir   +12 more
doaj   +2 more sources

A case of hereditary sensory autonomic neuropathy type IV

open access: yesAnnals of Indian Academy of Neurology, 2012
Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation.
G P Prashanth, Mahesh Kamate
doaj   +2 more sources

Early onset hereditary sensory autonomic neuropathy type I and not leprosy

open access: yesIndian Journal of Dermatology, 2009
Hereditary sensory autonomic neuropathies (HSAN) are rare forms of chronic neuropathies in children, which lead to severe complications like foot ulcers, mutilations, fractures and deformities.
Pande Sushil   +3 more
doaj   +1 more source

Hereditary sensory and autonomic neuropathy type V: Report of a rare case

open access: yesContemporary Clinical Dentistry, 2015
Hereditary sensory and autonomic neuropathy (HSAN) type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22).
Ritesh Kalaskar, Ashita Kalaskar
doaj   +2 more sources

Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome

open access: yesAnnals of Clinical and Translational Neurology
Uniparental 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
doaj   +2 more sources

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

open access: yesHepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman   +4 more
wiley   +1 more source

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