نتایج جستجو برای: hereditary sensory and autonomic neuropathies

تعداد نتایج: 16848591  

2012
Leigh Maria Ramos-Platt

There are many challenges to diagnosing peripheral neuropathy in children. While the symptoms are similar to those in adults, young children and those with developmental delays pose difficulties in extracting the appropriate history and performing a consistent and careful neurological examination. Neuropathic processes that present in childhood can be divided into those that are progressive and...

Journal: :Studies in health technology and informatics 2006
Alexandre Moreau-Gaudry Anne Prince Jacques Demongeot Yohan Payan

Pressure ulcers are recognized as a major health issue in individuals with spinal cord injuries and new approaches to prevent this pathology are necessary. An innovative health strategy is being developed through the use of computer and sensory substitution via the tongue in order to compensate for the sensory loss in the buttock area for individuals with paraplegia. This sensory compensation w...

2008
Mariana CEVEI Dorina STOICANESCU

Charcot-Marie-Tooth hereditary motor and sensory neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. Typical cases have distal muscle weakness and peroneal atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and pes cavus. Hereditary neuropathies are categorized by mode of inheritance and chromosomal locus. T...

Journal: :genetics in the 3rd millennium 0
آویسا عباسی avisa abbasi department of genetics, faculty of basic sciences, tarbiat modares university, tehran, iran مجید صادقی زاده majis sadeghizadeh مهرداد به منش mehrdad behmanesh امید آریانی omid ariani مسعود هوشمند masoud houshmand

charcot-marie-tooth disease (cmt) is the most common form of inherited peripheral neuropathy. cmt is genetically and clinically heterogenous group of hereditary motor and sensory neuropathies characterized by areflexia, distal sensory loss and progressive weakness of the distal limb muscles. the x-linked cmt (cmtx) is the second most frequent form of charcot-marie-tooth disease. the dominant cm...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1999
F Stögbauer P Young G Kuhlenbäumer R Kiefer V Timmerman E B Ringelstein J F Wang J M Schröder C Van Broeckhoven J Weis

Familial burning feet syndrome inherited as an autosomal dominant trait has been described in only one family. Due to an associated sensory neuropathy the autosomal dominant burning feet syndrome was suggested to represent a variant form of hereditary sensory and autonomic neuropathy type I (HSAN I). Clinical, histopathological, and molecular genetic studies were performed in a large German kin...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2010
Sameer Chhibber Cory Toth

(EMG) studies are critical for the detection, diagnosis, and characterization of peripheral neuropathy (PN). Although NCS and EMG abnormalities are often compared to clinical findings, these data are not always concordant. Examples of this discordance include patients with small fiber PN having severe deficits of nociceptive and thermal function but normal NCS1, or patients with Charcot-Marie-T...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1995
G Nicholson

Journal: :The Journal of clinical investigation 2008
Masoud Shekarabi Nathalie Girard Jean-Baptiste Rivière Patrick Dion Martin Houle André Toulouse Ronald G Lafrenière Freya Vercauteren Pascale Hince Janet Laganiere Daniel Rochefort Laurence Faivre Mark Samuels Guy A Rouleau

Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. ...

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