Thenar hypoplasia with associated radiologic abnormalities.

abstract：INTRODUCTION:Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment. METHODS:Quantitative brain MRI with voxel-based mor...

journal_title：Muscle & nerve

authors： Massa R,Pozzessere S,Rastelli E,Serra L,Terracciano C,Gibellini M,Bozzali M,Arca M

更新日期：2016-04-01 00:00:00

abstract：INTRODUCTION:Slowly progressive, genetic neuromuscular diseases (gNMDs) often lead to important motor deficiencies and functional limitations. The Quality of Life in Genetic Neuromuscular Disease Questionnaire (QoL-gNMD) is a new health-related quality-of-life questionnaire developed for these patients. The purpose of ...

journal_title：Muscle & nerve

authors： Dany A,Rapin A,Lavrard B,Saoût V,Réveillère C,Bassez G,Tiffreau V,Péréon Y,Sacconi S,Eymard B,Dramé M,Jolly D,Novella JL,Hardouin JB,Boyer FC

更新日期：2017-12-01 00:00:00

abstract：:The latency fluctuation of single motor unit potentials (MUPH) in the H-reflex is greater than the latency fluctuation of MUPs in the direct (MUPM) and recurrent (MUPF) responses. This has been attributed to the variability in the impulse generation at the site of nerve stimulation, and to the variation in the synapti...

journal_title：Muscle & nerve

authors： Soliven B,Maselli RA

更新日期：1992-06-01 00:00:00

abstract：:Metabolic costs of force generation were compared for constant-frequency and catchlike-inducing electrical stimulation. Repetitive catchlike-inducing trains consisted of 2 interpulse intervals (IPIs) at 12.5 ms, 1 IPI at 25 ms, and 5 IPIs at 50 ms. Constant-frequency trains consisted of 8 IPIs at 37.5 ms. One train wa...

journal_title：Muscle & nerve

authors： Ratkevicius A,Quistorff B

更新日期：2002-03-01 00:00:00

abstract：:Electrodiagnostic evaluation of patients with suspected polyneuropathy is useful for detecting and documenting peripheral abnormalities, identifying the predominant pathophysiology, and determining the prognosis for certain disorders. The electrodiagnostic classification of polyneuropathy is associated with morphologi...

journal_title：Muscle & nerve

authors： Donofrio PD,Albers JW

更新日期：1990-10-01 00:00:00

abstract：:The site of the recording electrode influences the amplitude of the compound muscle action potential (CMAP) and its variation over a length of nerve. The effects of large electrodes on this source of intraindividual variability were assessed. Right median nerves of 20 healthy subjects were studied, and recordings made...

journal_title：Muscle & nerve

authors： van Dijk JG,Tjon-a-Tsien A,van der Kamp W

更新日期：1995-01-01 00:00:00

abstract：INTRODUCTION:Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren. Placebo arm data (N = 57) provided insight into the natural history of the 6-minute walk test (6MWT) and other endpoints. ...

journal_title：Muscle & nerve

authors： McDonald CM,Henricson EK,Abresch RT,Florence JM,Eagle M,Gappmaier E,Glanzman AM,PTC124-GD-007-DMD Study Group.,Spiegel R,Barth J,Elfring G,Reha A,Peltz S

更新日期：2013-09-01 00:00:00

abstract：INTRODUCTION:Autosomal dominant haploinsufficiency of GATA2 causes monocytopenia and natural killer cell lymphopenia, resulting in predisposition to mycobacterial, fungal, and viral infections. METHODS:Herein we report on the clinical, serologic, electrophysiologic, and pathologic evaluations of a 29-year-old woman wi...

journal_title：Muscle & nerve

authors： Kazamel M,Klein CJ,Benarroch EE,Patnaik MM,Tracy JA

更新日期：2018-01-01 00:00:00

abstract：:Mitochondrial crystalline inclusions, frequently found in mitochondrial myopathies, were analyzed by crystallographic techniques and computer-aided image processing. It could be shown that these structures were real crystals. There are two distinct types of crystal, which can be distinguished by shape, size, and patte...

journal_title：Muscle & nerve

authors： Farrants GW,Hovmöller S,Stadhouders AM

更新日期：1988-01-01 00:00:00

abstract：:Influenza vaccination has been associated with adverse events including Guillain-Barré syndrome. Because the safety of influenza vaccination in patients with myasthenia gravis (MG) has not been established, some clinicians discourage vaccination for these patients. We explored whether the administration of influenza v...

journal_title：Muscle & nerve

authors： Zinman L,Thoma J,Kwong JC,Kopp A,Stukel TA,Juurlink DN

更新日期：2009-12-01 00:00:00

abstract：INTRODUCTION:Although formal spirometry is the gold standard for monitoring respiratory function in patients with myasthenia gravis (MG), such testing is often delayed or unavailable. There is a need for a simple bedside test that can accurately measure respiratory function. METHODS:We conducted a prospective, cross-s...

journal_title：Muscle & nerve

authors： Elsheikh B,Arnold WD,Gharibshahi S,Reynolds J,Freimer M,Kissel JT

更新日期：2016-01-01 00:00:00

abstract：:Case reports and open-label studies suggest that coenzyme Q(10) (CoQ(10)) treatment may have beneficial effects in mitochondrial disease patients; however, controlled trials are warranted to clinically prove its effectiveness. Thirty patients with mitochondrial cytopathy received 1200 mg/day CoQ(10) for 60 days in a r...

journal_title：Muscle & nerve

authors： Glover EI,Martin J,Maher A,Thornhill RE,Moran GR,Tarnopolsky MA

更新日期：2010-11-01 00:00:00

abstract：INTRODUCTION:Widespread musculoskeletal pain is a well-known symptom of myotonic dystrophy type 2 (DM2), but so far it has been addressed in only a few studies. METHODS:A postal survey for all traceable DM2 patients (n = 132) was conducted. A specific questionnaire, and severity and interference subscales of the Brief...

journal_title：Muscle & nerve

authors： Suokas KI,Haanpää M,Kautiainen H,Udd B,Hietaharju AJ

更新日期：2012-01-01 00:00:00

abstract：:Clinical testing for neuromuscular dysfunction is supported by an extensive amount of excellent basic information about normal and abnormal subcellular physiology and ultrastructure. This information provides an essential frame of reference for describing the rationale of single-fiber electromyography (SFEMG). SFEMG i...

journal_title：Muscle & nerve

authors： Keesey JC

更新日期：1989-08-01 00:00:00

abstract：:A mathematical model is presented that predicts the electric field induced in the arm during magnetic stimulation of a peripheral nerve. The arm is represented as a homogeneous, cylindrical volume conductor. The electric field arises from two sources: the time-varying magnetic field and the accumulation of charge on t...

journal_title：Muscle & nerve

authors： Roth BJ,Cohen LG,Hallett M,Friauf W,Basser PJ

更新日期：1990-08-01 00:00:00

abstract：INTRODUCTION:In this study we aimed to identify prognostic factors of ulnar neuropathy at the elbow (UNE) and developed a scoring system to establish the prognosis. METHODS:We collected baseline clinical, electrophysiologic, and ultrasonographic data from 2 cohorts. The outcomes for all patients were determined on fol...

journal_title：Muscle & nerve

authors： Beekman R,Zijlstra W,Visser LH

更新日期：2017-05-01 00:00:00

abstract：INTRODUCTION:Two previously reported Norwegian patients with painful muscle cramps and giant myotonic discharges were genotyped and compared with those of members of 21 families harboring the same mutation. METHODS:Using primers specific for SCN4A and CLCN1, the DNA of the Norwegian family members was amplified and bi...

journal_title：Muscle & nerve

authors： Torbergsen T,Jurkat-Rott K,Stålberg EV,Løseth S,Hødneø A,Lehmann-Horn F

更新日期：2015-10-01 00:00:00

abstract：INTRODUCTION:The aim of this study was to examine the coping strategies of 49 patients with amyotrophic lateral sclerosis (ALS) and the relationships of these strategies to their perceived health-related quality of life (HRQoL). METHODS:Forty-nine subjects were assessed for collection of demographic and medical data. ...

journal_title：Muscle & nerve

authors： Montel S,Albertini L,Spitz E

更新日期：2012-01-01 00:00:00

abstract：:The aim of this study was to estimate normal jitter in voluntarily activated extensor digitorum communis (EDC) and orbicularis oculi (OOc) muscles using a disposable concentric needle electrode (CNE). The EDC of 67 normal subjects (22 males and 45 females, mean age 35.5 +/- 10.2 years) and the OOc of 50 normal subject...

journal_title：Muscle & nerve

authors： Kouyoumdjian JA,Stålberg EV

更新日期：2008-06-01 00:00:00

abstract：:Mitochondrial trifunctional protein (TFP) deficiency is a rare disorder of the fatty acid beta-oxidation cycle with heterogeneous phenotypes and occurs secondary to either alpha- or beta-subunit mutations. We characterized the neuromyopathic phenotype of TFP deficiency through adolescence or adulthood in 11 patients, ...

journal_title：Muscle & nerve

authors： Spiekerkoetter U,Bennett MJ,Ben-Zeev B,Strauss AW,Tein I

更新日期：2004-01-01 00:00:00

abstract：:A 62-year-old woman with axonal Guillain-Barré syndrome developed weakness and urinary retention simultaneously. The retention failed to recover for 10 months even after she regained the ability to walk. The patient exhibited no postural hypotension. Videourodynamics showed that the retention was caused not by the bla...

journal_title：Muscle & nerve

authors： Sakakibara R,Uchiyama T,Tamura N,Kuwabara S,Asahina M,Hattori T

更新日期：2007-01-01 00:00:00

abstract：:In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic...

journal_title：Muscle & nerve

authors： Carpenter D,Ismail A,Robinson RL,Ringrose C,Booms P,Iles DE,Halsall PJ,Steele D,Shaw MA,Hopkins PM

更新日期：2009-10-01 00:00:00

abstract：:Muscle weakness, studied in 4 patients with multiple sclerosis (MS), was compared with values from normal subjects. Twitch occlusion showed that normal subjects could activate their muscles maximally, but patients rarely achieved greater than 60% activation. In both groups, motoneuron firing rates increased linearly w...

journal_title：Muscle & nerve

authors： Rice CL,Vollmer TL,Bigland-Ritchie B

更新日期：1992-10-01 00:00:00

abstract：:Laser Doppler flowmetry (LDF) was conducted on familial amyloidotic polyneuropathy (FAP) patients and asymptomatic carriers of FAP. Vasoconstrictive responses in the 11 FAP patients tested, induced by deep inspiration, were markedly depressed compared with those of the healthy controls. The responses decreased with th...

journal_title：Muscle & nerve

authors： Ando Y,Araki S,Shimoda O,Kano T

更新日期：1992-04-01 00:00:00

abstract：:The nosologic distinction between paramyotonia congenita and hyperkalemic periodic paralysis is somewhat blurred. Muscle membrane inexcitability induced by cooling seems to be characteristic of paramyotonia congenita. The effect of cooling on the maximal compound muscle action potential (CMAP) in patients with paramyo...

journal_title：Muscle & nerve

authors： Subramony SH,Wee AS,Mishra SK

更新日期：1986-10-01 00:00:00

abstract：:The epidemiology of cauda equina and conus medullaris lesions is not well known, and this study aimed to provide further information on this topic. In the period 1996-2004, patients fulfilling the clinical, electrodiagnostic, and radiological criteria for such lesions were identified. For cauda equina/conus medullaris...

journal_title：Muscle & nerve

authors： Podnar S

更新日期：2007-04-01 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：:Comparison was made between simultaneous recordings of the electromyogram (EMG) and acoustic myogram (AMG) signals and the torque produced by the lumbar erectores spinae muscles of three healthy subjects while they performed isometric contractions. Repeatability of each signal was studied. The AMG had a relationship t...

journal_title：Muscle & nerve

authors： Stokes IA,Moffroid MS,Rush S,Haugh LD

更新日期：1988-04-01 00:00:00

abstract：INTRODUCTION:We sought to determine the specificity of compound muscle action potential (CMAP) durations and amplitudes in a large critical illness neuromyopathy (CINM) cohort relative to controls with other neuromuscular conditions. METHODS:Fifty-eight patients with CINM who had been seen over a 17-year period were r...

journal_title：Muscle & nerve

authors： Kramer CL,Boon AJ,Harper CM,Goodman BP

更新日期：2018-03-01 00:00:00

abstract：:Twenty patients with neurogenic disorders, polymyositis, or muscular dystrophies were assessed clinically and by CT imaging of limb, limb girdle, and trunk muscles, using a standard protocol. On each side of these patients 26 movements were graded by the MRC scale, and 20 muscles were assessed by CT imaging. The clini...

journal_title：Muscle & nerve

authors： Swash M,Brown MM,Thakkar C

更新日期：1995-07-01 00:00:00