Results 21 to 30 of about 4,841 (226)

Case report of a 7-year-old CIPA child with multiple debridement's and amputations.

International Journal of Endorsing Health Science Research, 2021
Background: Congenital Insensitivity to Pain (CIPA), otherwise known as Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV), is a rarely occurring autosomal recessive disorder encompassed by a group of hereditary and sensory autonomic ...
Syed Ali Haider Zaidi, Sufyan Razak, Syeda Kiran Fatima, Hafiz Abdul Wase, Syed Mohammad Haider Zaidi, Zeeshan Yousuf, Farah Naz, Bilal Yousuf   +7 more
doaj   +1 more source

A rare case of postoperative pain in congenital analgesia: case report

Revista de Medicina da UFC, 2023
Objective: we describe a case of a patient with familial dysautonomia and postoperative pain. Methodology: clinical follow-up for 10 years in a tertiary pediatric hospital.
André Lavor Alves, Flávio Lobo Maia, Washington Aspilicueta Pinto Filho Pinto Filho, João Lucas Ferreira da Silva, Joaquim Trajano de Lima Filho   +4 more
doaj   +1 more source

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Disease mechanisms in hereditary sensory and autonomic neuropathies

Neurobiology of Disease, 2006
Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected.
Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman   +2 more
doaj   +1 more source

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family. [PDF]

Hum Genome Var
Munir A, Frederiksen HN, Ali F, Shah S, Rashid A, Oreshkov S, Khan K, Shahzeb M, Ullah I, Rahman HU, Ullah M, Ansar M, Rehman AU.   +12 more
europepmc   +3 more sources

The pathological diagnosis of nerve biopsies: a practical approach [PDF]

, 2016
The approach to the neuropathological assessment of nerve biopsies is the main focus of this review. Nerve biopsies are invasive diagnostic procedures resulting in a permanent neurological deficit, and are therefore carried out only following an in-depth
Brandner, S
core   +1 more source

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, Baets, J, Beijer, D, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Dotti, MT, López de Munain, A, Malandrini, A, Urtizberea, JA, Zulaica, M   +10 more
core   +1 more source

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies [PDF]

, 2008
PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing ...
Barbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, Camiel Verhamme, Frank Baas, Marianne de Visser   +5 more
core   +9 more sources

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, A Ramirez-Zamora, A Sghirlanzoni, A Wavre, C Denier, D Hilleman, F Graus, F Scaravilli, J Dalmau, J Dalmau, KG Gwathmey, M Hadjivassiliou, M Hadjivassiliou, M Pavan, P Zis, PD Shanmugarajah, PH Green, S Currie, T Alam   +18 more
core   +2 more sources