نتایج جستجو برای: hereditary sensory and autonomic neuropathies
تعداد نتایج: 16848591 فیلتر نتایج به سال:
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...
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...
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...
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...
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...
(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...
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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