Charcot-Marie-Tooth syndrome associated with cerebello-extrapyramidal manifestations in a patient with tomaculous neuropathy
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چکیده
منابع مشابه
Prolonged vecuronium neuromuscular blockade associated with Charcot Marie Tooth neuropathy.
Charcot Marie Tooth (CMT) disease comprises a group of disorders characterized by progressive distal muscle weakness and wasting. Review of the anaesthetic literature produced conflicting reports concerning the responses to neuromuscular blocking drugs in these patients. We describe a case in which vecuronium 0.11 mg kg(-1) produced prolonged neuromuscular blockade lasting 115 min in a patient ...
متن کاملWhole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
BACKGROUND Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic changes can be complicated. Comprehensive diagnostic assays must therefore identify all possible DNA c...
متن کاملAuditory Function in Patients with Charcot-marie-tooth Syndrome
The Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a relatively common neurological syndrome, which has seldom been associated with hearing dysfunction, particularly sudden sensorineural hearing loss (SNHL). Families with autosomal dominant, autosomal recessive and X-linked forms of inheritance have been described. It strikes one or more neuronals systems...
متن کاملCharcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans
PURPOSE Taxane-induced peripheral neuropathy (TIPN) is one of the most important survivorship issues for cancer patients. African Americans (AA) have previously been shown to have an increased risk for this toxicity. Germline predictive biomarkers were evaluated to help identify a priori which patients might be at extraordinarily high risk for this toxicity. EXPERIMENTAL DESIGN Whole exome se...
متن کاملIntermediate forms of Charcot-Marie-Tooth neuropathy: a review.
The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal conduction velocities corresponding to Schwann cell and axonal pathology. An intermediate group also exists with nerve conduction velocities, which overlaps the two main groups. Families with intermediate CMT can be recognized in which different affected individuals in the same ...
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ژورنال
عنوان ژورنال: The Italian Journal of Neurological Sciences
سال: 1993
ISSN: 0392-0461,1590-3478
DOI: 10.1007/bf02339220