We present an acute stridor secondary to bilateral vocal cord paresis in a patient with demyelinating form (type I) of hereditary motor and sensory neuropathy (HMSN). Management problems are discussed and HMSN reviewed.

introduction: arteriovenous fistulas (avf) make chronic hemodialysis easy, but the complications are unpredictable. ischemic neuropathy due to arterial insufficiency is one of the most important complications of avf. this study was designed to evaluate ischemic neuropathy using electro diagnostic method in the extremity carrying fistula. methods: in this cross-sectional study, 37 hemodialysis p...

T he recent barrage of linkage assignments and gene discoveries has confirmed the clinical and genetic heterogeneity of ataxic diseases. They all share the prototypic feature of difficulty in walking though many additionally present dysarthria, spasticity, retinopathy, and other neurological symptoms. Broad subgroups of ataxias and related diseases exist including spinocerebellar and spastic at...

The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinp...

hereditary sensory and autonomic neuropathies (hsan) are clinically and genetically a heterogeneous group of disorders. there are overlapping variants of hsan regarding clinical manifestations and pathologic findings. five types of hsan have been described by dyck (1993) and there are two other types which have been introduced recently. we report four siblings that seem to suffer from symptomat...

Distal hereditary motor neuropathies represent a group of rare genetic disorders characterized by progressive distal motor weakness without sensory loss. Their genetic heterogeneity is high and thus eligible for diagnostic whole exome sequencing. The authors report successful application of whole exome sequencing in diagnosing a second consanguineous family with distal hereditary motor neuropat...

Not recognising the presence of decreased excitability may give rise to a seemingly low compound muscle action potential, which may lead erroneously to the conclusion of conduction block. To quantify decreased electrical excitability, stimulation-response curves and the current needed to achieve 90% of the maximal compound muscle action potential amplitude, i90, were obtained in 17 healthy cont...