نتایج جستجو برای: hereditary sensory and motor neuropathy

تعداد نتایج: 16878445  

Journal: :Indian journal of dermatology, venereology and leprology 1995
R R Mittal

Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic nervous system, which controls i...

2011
Jonathan Baets Tine Deconinck Els De Vriendt Magdalena Zimoń Laetitia Yperzeele Kim Van Hoorenbeeck Kristien Peeters Ronen Spiegel Yesim Parman Berten Ceulemans Patrick Van Bogaert Adolf Pou-Serradell Günther Bernert Argirios Dinopoulos Michaela Auer-Grumbach Satu-Leena Sallinen Gian Maria Fabrizi Fernand Pauly Peter Van den Bergh Birdal Bilir Esra Battaloglu Ricardo E. Madrid Dagmara Kabzińska Andrzej Kochanski Haluk Topaloglu Geoffrey Miller Albena Jordanova Vincent Timmerman Peter De Jonghe

Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are kn...

Journal: :Journal of Clinical & Medical Case Reports 2014

Journal: :Brain : a journal of neurology 2010
Magdalena Zimoń Jonathan Baets Michaela Auer-Grumbach José Berciano Antonio Garcia Eduardo Lopez-Laso Luciano Merlini David Hilton-Jones Meriel McEntagart Andrew H Crosby Nina Barisic Eugen Boltshauser Christopher E Shaw Guida Landouré Christy L Ludlow Rachelle Gaudet Henry Houlden Mary M Reilly Kenneth H Fischbeck Charlotte J Sumner Vincent Timmerman Albena Jordanova Peter De Jonghe

Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct neuromuscular phenotypes: hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy and congenital distal spinal mus...

Journal: :Anesthesia and analgesia 2004
Ming-Chang Kao Shen-Kou Tsai Mei-Yung Tsou Hsien-Kuang Lee Wan-Yuo Guo Jenkin S Hu

We report a case of permanent paraplegia in an 81-yr-old patient who had thoracic epidural catheterization performed under general anesthesia for abdominal surgery. The epidural needle was introduced at the T9-10 interspace, and 3 passes were made to locate the epidural space with the loss-of-resistance-to-air technique. During the postoperative epidural pump infusion, the patient was unaware o...

Hatamian , H, Najaf-abady , H, Sobhani , AR,

ABSTRACT Carpal Tunnel Syndrome is the most common entrapment syndrome. Median-ulnar motor comparative technique with Median motor technique in carpal tunnel syndrome were studied. In 50 patients with 72 hands with clinically defined carpal tunnel syndrome and electrophysilogic evidence of Median neuropathy at wrist based upon a prolonged sensory nerve distal latency with 30 asymptomatic volu...

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