Current perception threshold testing in Fabry's disease.

abstract：:To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patie...

journal_title：Muscle & nerve

authors： Lamperti C,Fabbri G,Vercelli L,D'Amico R,Frusciante R,Bonifazi E,Fiorillo C,Borsato C,Cao M,Servida M,Greco F,Di Leo R,Volpi L,Manzoli C,Cudia P,Pastorello E,Ricciardi L,Siciliano G,Galluzzi G,Rodolico C,Santoro L

更新日期：2010-08-01 00:00:00

abstract：INTRODUCTION:Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy. METHODS:We report a patient who presented with gait impairment and dysarthria. Clinical and neurophysiological assessment disclosed upper...

journal_title：Muscle & nerve

authors： Neutel D,Miltenberger-Miltenyi G,Silva I,de Carvalho M

更新日期：2012-02-01 00:00:00

abstract：:Bcl-2 and Bax immunohistochemistry was examined in the skeletal muscle of rats after cutting the sciatic nerve, as a model of denervation and reinnervation, and in the anterior tibialis muscle of rats after an intramuscular injection of metoclopramide, as a model of necrosis and regeneration of muscle fibers, to bette...

journal_title：Muscle & nerve

authors： Olivé M,Ferrer I

更新日期：2000-12-01 00:00:00

abstract：:This article describes nerve conduction studies of the deep temporal nerve (DTN) and the mylohyoid nerve (MHN) motor branches of the trigeminal nerve. These nerves were stimulated intraorally with a pediatric surface stimulator. Compound muscle action potentials were recorded over the temporalis and mylohyoid muscles ...

journal_title：Muscle & nerve

authors： Dillingham TR,Spellman NT,Chang AS

更新日期：1996-03-01 00:00:00

abstract：:We describe two cases of neuralgic amyotrophy with electrophysiological evidence of conduction block across the lower trunk of the brachial plexus. Low-output impedance stimulation of the cervical spinal roots in combination with collision was used to accurately demonstrate the conduction block. Complete electrophysio...

journal_title：Muscle & nerve

authors： Watson BV,Nicolle MW,Brown JD

更新日期：2001-04-01 00:00:00

abstract：:We have devised a method of sensory nerve conduction in the interdigital nerves of the foot using the near-nerve needle and signal averaging techniques. In 40 normal controls between the ages of 20 and 59, there was no difficulty in recording sensory compound nerve action potential (CNAP) in the various interdigital n...

journal_title：Muscle & nerve

authors： Oh SJ,Kim HS,Ahmad BK

更新日期：1984-03-01 00:00:00

abstract：:A new combined stain for the simultaneous demonstration of motor nerve terminals and cholinesterase at neuromuscular junctions is described. It employs bromoindoxyl acetate dye-staining for cholinesterase and silver-gold impregnation for nerve terminals. The clarity and reliability of the stain permit quantitative mea...

journal_title：Muscle & nerve

authors： Pestronk A,Drachman DB

更新日期：1978-01-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is generally associated with proximal weakness and muscle wasting. An X-linked variant with calf hypertrophy has been reported. We describe a young man with SMA type 4 with prominent calf hypertrophy in whom DNA analysis showed a homozygous deletion of exons 7 and 8 in the telomeric copy ...

journal_title：Muscle & nerve

authors： Yiu EM,Ravat S,Ryan MM,Shield LK,Smith LJ,Kornberg AJ

更新日期：2008-07-01 00:00:00

abstract：INTRODUCTION:Diaphragm excursion measured via ultrasound may be an important imaging outcome measure of respiratory function. We developed a new method for measuring diaphragm movement and compared it to the more traditional M-mode method. METHODS:Ultrasound images of the right and left hemidiaphragms were collected t...

journal_title：Muscle & nerve

authors： Goutman SA,Hamilton JD,Swihart B,Foerster B,Feldman EL,Rubin JM

更新日期：2017-01-01 00:00:00

abstract：INTRODUCTION:We investigated the effects of aerobic and resistance exercise in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS:Eighteen CIDP patients treated with subcutaneous immunoglobulin performed 12 weeks of aerobic exercise and 12 weeks of resistance exercise after a run-in period...

journal_title：Muscle & nerve

authors： Markvardsen LH,Overgaard K,Heje K,Sindrup SH,Christiansen I,Vissing J,Andersen H

更新日期：2018-01-01 00:00:00

abstract：INTRODUCTION:Paraneoplastic lower motor neuronopathies have been reported rarely with Hodgkin lymphoma. METHODS:We report a case of rapidly progressive motor neuronopathy preceding the diagnosis of Hodgkin lymphoma. RESULTS:A 31-year-old woman developed subacute rapidly progressive quadriparesis. Electrodiagnostic st...

journal_title：Muscle & nerve

authors： Flanagan EP,Sandroni P,Pittock SJ,Inwards DJ,Jones LK Jr

更新日期：2012-11-01 00:00:00

abstract：:Modern neuromuscular electrodiagnosis (EDX) and neuromuscular ultrasound (NMUS) require a universal language for effective communication in clinical practice and research and, in particular, for teaching young colleagues. Therefore, the AANEM and the IFCN have decided to publish a joint glossary as they feel the need ...

journal_title：Muscle & nerve

authors： Dengler R,de Carvalho M,Shahrizaila N,Nodera H,Vucic S,Grimm A,Padua L,Schreiber S,Kneiser MK,Hobson-Webb LD,Boon AJ,Smith BE,Litchy WJ,Li Y,Lenihan M,Thompson VB,Stalberg E,Sanders DB,Kincaid JC

更新日期：2020-07-01 00:00:00

abstract：:CNS conduction and autonomic nervous function were investigated in 15 patients with HMSN I. Central motor conduction time (CMCT) was estimated with magnetic brain stimulation and electrical nerve root stimulation. Somatosensory evoked potential (SEP) and visual evoked potential (VEP) were used for assessment of centra...

journal_title：Muscle & nerve

authors： Solders G,Andersson T,Persson A

更新日期：1991-11-01 00:00:00

abstract：INTRODUCTION:Nebulin is a giant actin-binding protein in the thin filament of the skeletal muscle sarcomere. Studies of nebulin interactions are limited by the size, complexity, and poor solubility of the protein. We divided the nebulin super-repeat region into a super-repeat panel, and studied nebulin/actin interactio...

journal_title：Muscle & nerve

authors： Laitila J,Lehtonen J,Lehtokari VL,Sagath L,Wallgren-Pettersson C,Grönholm M,Pelin K

更新日期：2019-01-01 00:00:00

abstract：INTRODUCTION:Onabotulinum toxin serotype A (BT-A) is used for a variety of motor and sensory disorders related to abnormal muscle activity. METHODS:We developed a high-resolution rodent model to allow precise determination of the effect of BT-A dose (measured in units) and injectate volume (measured in μl) on the effi...

journal_title：Muscle & nerve

authors： Hulst JB,Minamoto VB,Lim MB,Bremner SN,Ward SR,Lieber RL

更新日期：2014-05-01 00:00:00

abstract：BACKGROUND:A new technique to obtain the sensory nerve action potential (SNAP) of the medial femoral cutaneous nerve is described. METHODS:SNAPs were recorded from 104 subjects with a bar recording electrode 10 cm proximal to the patella along an imaginary line drawn between the medial edge of the patella and the femo...

journal_title：Muscle & nerve

authors： Geney-Castro DE,Vanegas-Muñóz J,Plata-Contreras J,Salinas-Duran F

更新日期：2020-03-01 00:00:00

abstract：:Factors that affect the shape of the so-called "normal cloud" of the turns and amplitude measurements of the electromyographic interference pattern are investigated. As the force of voluntary contraction increases from low to moderate levels, the number of turns in the signal increase faster than does the mean amplitu...

journal_title：Muscle & nerve

authors： Nandedkar SD,Sanders DB,Stalberg EV

更新日期：1991-01-01 00:00:00

abstract：BACKGROUND:Carpal tunnel syndrome (CTS) may be associated with structural lesions or anatomical variations at the wrist, especially in patients whose symptoms are more severe in, or limited to, the nondominant hand. The aims of this study were to identify the type and frequency of structural abnormalities and anatomica...

journal_title：Muscle & nerve

authors： Chompoopong P,Preston DC

更新日期：2020-12-21 00:00:00

abstract：:Piriformis syndrome (PS) is a rare condition characterized by pain and paresthesia of the buttock, often radiating to the posterior thigh. A patient with sciatica that was clinically suspicious for PS, underwent diagnostic work-up. A diagnosis of diffuse large B-cell lymphoma with neurolymphomatosis (NL) was made. To ...

journal_title：Muscle & nerve

authors： Ye BS,Sunwoo IN,Suh BC,Park JP,Shim DS,Kim SM

更新日期：2010-03-01 00:00:00

abstract：:We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and i...

journal_title：Muscle & nerve

authors： Gamez J,Fernandez R,Bruno C,Andreu AL,Cervera C,Navarro C,Schwartz S,Dimauro S

更新日期：1999-08-01 00:00:00

abstract：:Previous studies suggest that the muscle fiber lysosome system plays a central role in the increased formation of autophagosomes and autolysosomes that occurs in the context of chloroquine-induced myopathy. The goal of this study was to characterize the contribution of receptor-mediated intracellular transport, partic...

journal_title：Muscle & nerve

authors： Masuda T,Ueyama H,Nakamura K,Jikumaru M,Toyoshima I,Kumamoto T

更新日期：2005-04-01 00:00:00

abstract：INTRODUCTION:We examined the effects of pain site and intensity on function in patients with myotonic dystrophy type 1 (DM1) and facioscapulohumeral muscular dystrophy (FSHD) and chronic pain. METHODS:Questionnaires assessing pain sites, pain extent (number of sites), pain intensity, and pain interference were complet...

journal_title：Muscle & nerve

authors： Miró J,Gertz KJ,Carter GT,Jensen MP

更新日期：2014-06-01 00:00:00

abstract：:Morphological changes of the subneural apparatus (SNA) during denervation and reinnervation are demonstrated using the hamster peroneus longus muscle. One week after nerve section, synaptic grooves (SGs) were more shallow, with lowered sarcoplasmic ridges. After 4 weeks, the whole SNA area was elevated above the sarco...

journal_title：Muscle & nerve

authors： Matsuda Y,Oki S,Kitaoka K,Nagano Y,Nojima M,Desaki J

更新日期：1988-12-01 00:00:00

abstract：INTRODUCTION:The neuropathy in patients with neurofibromatosis type 2 (NF2) is difficult to quantify and follow up. In this study we compared 3 methods that may help assess motor axon pathology in NF2 patients. METHODS:Nerve conduction studies in median nerves were supplemented by deriving motor unit number estimates ...

journal_title：Muscle & nerve

authors： Farschtschi S,Gelderblom M,Buschbaum S,Bostock H,Grafe P,Mautner VF

更新日期：2017-03-01 00:00:00

abstract：:Cytoplasmic body myopathy (CBM) is characterized by proteinaceous inclusion bodies in muscle tissue. A 43-year-old woman presented with rapidly progressive weakness and dysphagia. Electromyography (EMG) elsewhere demonstrated lower-limb chronic partial denervation. Muscle biopsy showed fiber size variation without dia...

journal_title：Muscle & nerve

authors： Krishnan AV,Pamphlett R,Burke D,Wills EJ,Kiernan MC

更新日期：2004-11-01 00:00:00

abstract：BACKGROUND:Diagnosing cervical radiculopathy (CR) can be difficult because of symptomatic overlap with peripheral neuropathies. In this retrospective observational study, we aimed to determine whether short-tau inversion recovery (STIR) magnetic resonance imaging (MRI) sequences are useful for detecting signs of denerv...

journal_title：Muscle & nerve

authors： Yoshida T,Suwazono S,Sueyoshi T,Izumi Y,Nodera H

更新日期：2020-12-13 00:00:00

abstract：:We measured distal sympathetic and vagal function in 73 consecutive patients with diabetic neuropathy seen at the Mayo Autonomic Reflex Laboratory. Postganglionic sympathetic failure measured proximally within the foot occurred as commonly as vagal failure (58% and 55%, respectively) and occurred much more frequently ...

journal_title：Muscle & nerve

authors： Low PA,Zimmerman BR,Dyck PJ

更新日期：1986-09-01 00:00:00

abstract：:Muscle fatigue occurs in many neuromuscular diseases, including the muscular dystrophies, and it contributes to a loss of functional capacity and reduced quality of life for affected patients. An improvement in fatigue resistance has been observed in diaphragm muscles of mdx mice following insulin-like growth factor-I...

journal_title：Muscle & nerve

authors： Gregorevic P,Plant DR,Lynch GS

更新日期：2004-09-01 00:00:00

abstract：:The clinical and neurophysiological features of multifocal motor neuropathy (MMN) indicate selective involvement of motor axons, but pathological abnormalities in sensory axons suggest a more widespread disease process. The present study was undertaken to determine whether the focal abnormalities are associated with w...

journal_title：Muscle & nerve

authors： Cappelen-Smith C,Kuwabara S,Lin CS,Burke D

更新日期：2002-12-01 00:00:00

abstract：:The frequency of a recently described point mutation of the ciliary neurotrophic factor (CNTF) gene was investigated in a population of 154 German patients with motor neuron disease (MND). Twenty-two percent of the patients were heterozygous, 2% homozygous for the CNTF mutation. Since the gene defect is per se not lin...

journal_title：Muscle & nerve

authors： Giess R,Goetz R,Schrank B,Ochs G,Sendtner M,Toyka K

更新日期：1998-02-01 00:00:00