Results 11 to 20 of about 730,614 (221)

A case of hereditary sensory autonomic neuropathy type IV

Annals 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

Hereditary sensory autonomic neuropathy and anaesthesia - a case report

Indian 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, Anil Sonawane, Sachin Chandolkar   +2 more
doaj   +1 more source

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

Journal of Medical Case Reports, 2017
Background Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela   +5 more
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Hereditary sensory neuropathy type I [PDF]

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

Molecular 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, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath   +12 more
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A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family

Human 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, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Kashif Khan, Muhammad Shahzeb, Inam Ullah, Hamid Ur Rahman, Mukhtar Ullah, Muhammad Ansar, Atta Ur Rehman   +12 more
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Early onset hereditary sensory autonomic neuropathy type I and not leprosy

Indian 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, Kharkar Vidya, Mahajan Sunanda, Khopkar Uday   +3 more
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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).
Praveen Dhanapal, Niharika Chaurasia, Anupreeti Jain   +2 more
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A rare case of congenital corneal anesthesia

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023
A 12-year-old male, who had a history of trauma in his right eye at 2 years of age, presented to the clinic with diminution of vision and whitish discoloration in his right eye.
Kunj Naik, Aditya Ganesh Garlapati, Shailaja Anand, Renu Magdum, Nilay Dhore   +4 more
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Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report

Frontiers in Surgery, 2022
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disease classified as hereditary sensory and autonomic neuropathy type VI. Patients with CIPA are characterized by insensitivity to pain, episodes of unexplained fever,
Ying Zhang, Zhiyu Geng
doaj   +1 more source