Genetic neuromuscular disease

Reilly, Mary

doi:10.1136/jnnp.73.suppl_2.ii12

Cited by 25 publications

(25 citation statements)

References 5 publications

(3 reference statements)

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“…Muscle weakness, sensory dysfunction and forthcoming physical disability were more pronounced in patients with more severe axonal dysfunction. This relationship has recently gained acceptance in the literature for HMSN I [29,38], but to our knowledge the role of axonal dysfunction has been investigated thoroughly only in two studies with adult patients with HMSN Ia [15,23,24]. In those cross-sectional studies CMAP amplitudes correlated with manually tested distal muscle strength.…”

Section: Discussionmentioning

confidence: 85%

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

et al. 2004

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Section: Discussionmentioning

confidence: 85%

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

et al. 2004

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“…For an up to date list of defined mutations (some of which are available as a clinical service) see Reilly and Hanna. 1 Muscle biopsy also must be discussed between clinicians neurophysioloists and pathologists. The developments in immunohistochemistry and the delineation of the genetics of the muscular dystrophies means that processing will be tailored to the clinical question.…”

Section: Investigationsmentioning

confidence: 99%

Evaluating Muscle Symptoms

Petty

2003

Journal of Neurology, Neurosurgery &Amp; Psychiatry

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“…As mentioned previously, the group of CMT diseases is quite heterogeneous, whether classified on the basis of electrophysiologic findings or molecular diagnosis. 1 The classical symptoms including weakness and sensory loss of lower or upper extremities vary widely amongst different types of CMT, and accordingly, so does the grade of disability. Of particular importance to the anesthesiologist is the fact that several rare types of CMT have phrenic nerve involvement which may cause diaphragmatic weakness, even in early stages of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…In four patients the diagnosis had been ascertained by genetic testing and classified as CMT 1A (duplication 17p11.2). 1 On examination, all patients presented with typical clinical symptoms of the disease including high foot arches and distal wasting of the lower limbs. Three patients had progressive difficulty in walking, but they were independently ambulatory.…”

Section: Methodsmentioning

confidence: 99%

Mivacurium-induced neuromuscular block in adult patients suffering from Charcot-Marie-Tooth disease

Münster

2006

Can J Anesth/J Can Anesth

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Purpose:The response to non-depolarizing neuromuscular blocking drugs is variable in patients with Charcot-Marie-Tooth (CMT) disease. We speculated that CMT involvement of the monitored muscle may be partially responsible for this inconsistency. We therefore investigated the response to a standard dose of mivacurium simultaneously assessed at adductor pollicis (AP) and orbicularis oculi (OO) muscles in five patients with CMT.Clinical features: Over a period of one year, five adult patients with CMT scheduled for orthopedic surgery were studied. The right arm and the right supercilliary arch were prepared for acceleromyographic (AMG) neuromuscular monitoring. The AMG probes were attached at the distal interphalangeal joint of the right thumb and on the right upper eyelid to record the response of the AP and OO, respectively. The ulnar nerve and upper part of the facial nerve were stimulated supramaximally with repeated train-of-four stimuli (2 Hz, 0.2 msec) every 15 sec via applied surface electrodes. Following monitor calibration and induction of general anesthesia, mivacurium 0.2 mg·kg -1 iv was given, and the time course of relaxation and recovery were assessed. Times to spontaneous recovery of T1 to 25% were 15 ± 3 vs 12 ± 4 min in the AP and OO muscle groups respectively, whereas times to 90% recovery were 23 ± 5 vs 29 ± 10 min, respectively. Conclusion: The onset and recovery characteristics associated with mivacurium-induced neuromuscular block were similar at the AP and OO muscle groups. A near normal response to mivacurium was observed in this small series of patients with CMT disease. Objectif : La réaction aux curarisants non dépolarisants varie d'un patient à l'autre dans la maladie de Charcot-Marie-Tooth (CMT). En supposant qu'une atteinte du muscle sous observation et déjà atteint par la maladie MCT était partiellement responsable de cette variation, nous avons vérifié la réponse à une dose habituelle de mivacurium simultanément à l'adducteur du pouce (AP) et au muscle orbiculaire des paupières (OP) chez cinq patients atteints de CMT. Éléments cliniques : Au cours d'une année, cinq patients adultes atteints de CMT et opérés en orthopédie ont été étudiés. Le bras droit et l'arcade sourcilière ont été préparés pour un monitorage de la transmission neuromusculaire accéléromyographique (AMG). Les sondes d'AMG ont été fixées à l'articulation interphalan-

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Genetic neuromuscular disease

Cited by 25 publications

References 5 publications

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

Evaluating Muscle Symptoms

Mivacurium-induced neuromuscular block in adult patients suffering from Charcot-Marie-Tooth disease

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