Results 211 to 220 of about 10,587 (266)

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy

Clinical Genetics, 2023
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through whole‐exome sequencing combined with arrayCGH from DNA of a fetus presenting with
Y. Capri, Lucas Bourmance, C. Dupont, Marie-Hélène Saint-Frison, F. Guimiot, S. Grotto, Y. Chitrit, A. Laquérriere, J. Melki   +8 more
semanticscholar   +1 more source

A Rare Case of Hereditary Sensory and Autonomic Neuropathy Type 4 in a 3-Year-Old: Clinical and Genetic Findings

Turkiye Klinikleri Journal of Pediatrics
ABS TRACT Hereditary sensory and autonomic neuropathy (HSAN) is a diverse collection of illnesses that impact sensory and autonomic neurons. HSAN Type 4 (HSAN-4), or congenital insensitivity to pain with anhidrosis (CIPA), is an uncommon autosomal ...
Arife Derda YÜCEL ŞEN, Havva Özüm Kolsuz, Oğuz Çi̇li̇ngi̇r, K. Carman, C. Yarar   +4 more
semanticscholar   +1 more source

Type IV Hereditary Sensory and Autonomic Neuropathy: Challenges and Functional Outcomes.

Journal of pediatric orthopedics
BACKGROUND Type IV Hereditary Sensory and Autonomic Neuropathy (HSAN IV) is an exceedingly rare autosomal recessive disease classically characterized by generalized loss of temperature/pain sensation, intellectual disability, and anhidrosis.
Ahmed Dudic, Paul Van Schuyver, Dane C Van Tassel, Mohan V. Belthur   +3 more
semanticscholar   +1 more source

Phenotypic features of RETREG1‐related hereditary sensory autonomic neuropathy

Journal of the peripheral nervous system, 2023
Homozygous loss‐of‐function mutations in the RETREG1 gene result in Hereditary Sensory Autonomic Neuropathy Type 2B. Clinical features include pain loss, autonomic disturbances, and upper motor neuron features.
A. Çakar, Gulandam Bagırova, H. Durmuş, O. Uyguner, Y. Parman   +4 more
semanticscholar   +1 more source

Hereditary sensory and autonomic neuropathies

2013
Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor ...
openaire   +2 more sources

Ophthalmic manifestation of Hereditary Sensory and Autonomic Neuropathy – Five-year follow up

Indian Journal of Ophthalmology - Case Reports, 2022
Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare genetic disorder that usually begins in childhood. It is associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception).
P. Dhanapal, Niharika Chaurasia, Anupreeti Jain   +2 more
semanticscholar   +1 more source

Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies

Current Opinion in Neurology, 2001
The hereditary motor, sensory and autonomic neuropathies are a heterogeneous group of neurological diseases. The classification of such is presently in a state of change. The original classification system was based on clinical findings whose limitations are being unfurled with increasing insights into the molecular basis of these disorders.
C L, Bennett, P F, Chance
openaire   +2 more sources

Hereditary Sensory and Autonomic Neuropathies

2001
Abstract The hereditary sensory and autonomic neuropathies (HSAN) represent a rare group of disorders. A classification of the conditions belonging to this group has been in evolution for decades. At present, the categorization of patients is based on the mode of inheritance, clinical manifestations, and electrodiagnostic and ...
openaire   +1 more source

Mechanisms of disease in hereditary sensory and autonomic neuropathies

Nature Reviews Neurology, 2012
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders of the PNS. Progressive degeneration, predominantly of sensory and autonomic neurons, is the main pathological feature in patients with HSAN, and causes prominent sensory loss and ulcerative mutilations in combination with variable ...
Rotthier, Annelies, Baets, Jonathan, Timmerman, Vincent, Janssens, Katrien   +3 more
openaire   +3 more sources

Hereditary sensory and autonomic neuropathy type I (Thévenard's disease)

Skeletal Radiology, 1996
Radiographic and MR findings of two cases of hereditary sensory and autonomic neuropathy type I are reported. This rare disease has a non-specific radiographic and MR appearance. Differential diagnosis includes other types of hereditary and acquired sensory neuropathies affecting small myelinated and unmyelinated nerve fibers, as well as vascular ...
Allmann, Karl-Heinz, Leu, Hansjoerg, Burg, Günther, Hodler, J.   +3 more
openaire   +3 more sources