Pompe disease, the must-not-miss diagnosis: A report of 3 patients.

abstract：INTRODUCTION:Amyotrophic lateral sclerosis (ALS) is a debilitating neurologic disorder with poor survival rates and no clear biomarkers for disease diagnosis and prognosis. METHODS:We compared serum microRNA (miRNA) expression from patients with ALS with healthy controls and patients with multiple sclerosis and Alzhei...

journal_title：Muscle & nerve

authors： Raheja R,Regev K,Healy BC,Mazzola MA,Beynon V,Von Glehn F,Paul A,Diaz-Cruz C,Gholipour T,Glanz BI,Kivisakk P,Chitnis T,Weiner HL,Berry JD,Gandhi R

更新日期：2018-08-01 00:00:00

abstract：:Peripheral neuropathies are reported to arise as a result of the systemic inflammatory response produced by a full-thickness cutaneous burn injury. This study was designed to characterize the magnitude and time course of functional and morphological changes in peripheral axons that arise after a full-thickness dermal ...

journal_title：Muscle & nerve

authors： Higashimori H,Whetzel TP,Mahmood T,Carlsen RC

更新日期：2005-05-01 00:00:00

abstract：:The aim of this study was to investigate in control subjects the effect of imagery training on the torque of plantar-flexor muscles of the ankle. Twenty-nine subjects were allocated to one of three groups that performed either imagery training, low-intensity strength training, or no training (only measurements). The l...

journal_title：Muscle & nerve

authors： Zijdewind I,Toering ST,Bessem B,Van Der Laan O,Diercks RL

更新日期：2003-08-01 00:00:00

abstract：:Seven 2-day-old golden retriever pups were given focal intramuscular injections of a first generation adenovirus-dystrophin minigene construct and adenovirus-beta-galactosidase construct as a 2:1 mixture into the left anterior tibial muscle. The spread of transgene expression within the anterior tibial muscle was comp...

journal_title：Muscle & nerve

authors： O'Hara AJ,Howell JM,Taplin RH,Fletcher S,Lloyd F,Kakulas B,Lochmüller H,Karpati G

更新日期：2001-04-01 00:00:00

abstract：INTRODUCTION:Sarcopenia likely comprises muscle fiber denervation and re-innervation, resulting in clustering of muscle fibers of the same type (classified by myosin heavy chain isoform composition). Development of methodology to quantitatively evaluate clustering of muscle fibers according to fiber type is necessary. ...

journal_title：Muscle & nerve

authors： Greising SM,Medina-Martínez JS,Vasdev AK,Sieck GC,Mantilla CB

更新日期：2015-07-01 00:00:00

abstract：:Type 1 diabetes mellitus (T1DM) is associated with a peripheral neuropathy that reduces nerve conduction velocity. This may impair high motor-unit discharge frequencies (MUDF), decrease muscle activation, and curtail the ability to sustain repetitive contractile tasks. We examined (1) whether MUDF, the contractile pro...

journal_title：Muscle & nerve

authors： Almeida S,Riddell MC,Cafarelli E

更新日期：2008-02-01 00:00:00

abstract：INTRODUCTION:We determined whether instrumenting timed functional tasks with wireless inertial motion sensors were responsive to facioscapulohumeral muscular dystrophy (FSHD) progression and movement pattern changes. METHODS:Ten individuals who were clinically affected with genetically confirmed FSHD, mean age 54 year...

journal_title：Muscle & nerve

authors： Statland JM,Karanevich A,Bruetsch A,Huisinga J

更新日期：2019-11-01 00:00:00

abstract：:This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencepha...

journal_title：Muscle & nerve

authors： Uncini A,Servidei S,Silvestri G,Manfredi G,Sabatelli M,Di Muzio A,Ricci E,Mirabella M,Di Mauro S,Tonali P

更新日期：1994-06-01 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：INTRODUCTION:In this study we determined the reliability and validity of electrical impedance myography (EIM) in facioscapulohumeral muscular dystrophy (FSHD). METHODS:We performed a prospective study of EIM on 16 bilateral limb and trunk muscles in 35 genetically defined and clinically affected FSHD patients (reliabi...

journal_title：Muscle & nerve

authors： Statland JM,Heatwole C,Eichinger K,Dilek N,Martens WB,Tawil R

更新日期：2016-10-01 00:00:00

abstract：:We have previously demonstrated that patients with mitochondrial myopathies can benefit from short-term aerobic exercise training. In this study, we compared the responses to short-term aerobic training of patients with mitochondrial myopathies, patients with nonmetabolic myopathies, and sedentary normal subjects. Tra...

journal_title：Muscle & nerve

authors： Taivassalo T,De Stefano N,Chen J,Karpati G,Arnold DL,Argov Z

更新日期：1999-09-01 00:00:00

abstract：:Nerve guides seeded with Schwann cells (SCs) promote axonal regeneration in peripheral nerve lesions. We examined the applicability of bioluminescent imaging (BLI) for monitoring the fate of SCs in nerve guides after implantation. Rat SCs were transfected with the firefly luciferase (Fluc) gene and subsequently seeded...

journal_title：Muscle & nerve

authors： Ma MS,Van Dam G,Meek M,Boddeke E,Copray S

更新日期：2009-11-01 00:00:00

abstract：INTRODUCTION:Chronic immune sensorimotor polyradiculopathy (CISMP) is a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) variant affecting both sensory and motor nerve roots without evidence of peripheral nerve demyelination. METHODS:We report a case series of 9 patients with CISMP, identified from 2 t...

journal_title：Muscle & nerve

authors： Thammongkolchai T,Suhaib O,Termsarasab P,Li Y,Katirji B

更新日期：2019-06-01 00:00:00

abstract：:The double-step technique of repetitive nerve stimulation was compared with repetitive nerve stimulation to a distal and a proximal muscle and with single fiber needle electromyography in 10 patients with myasthenia gravis. We conclude that the double-step technique is slightly more sensitive than repetitive nerve sti...

journal_title：Muscle & nerve

authors： Gilchrist JM,Sanders DB

更新日期：1987-03-01 00:00:00

abstract：:Motor evoked potentials (MEPs) obtained by electrical root stimulation and F waves were used to examine the proximal nerve conduction velocity (CV) to tibialis anterior (TA), extensor digitorum brevis (EDB), flexor carpi radialis (FCR), and abductor pollicis brevis (APB) muscles in 40 humans. By subtracting motor late...

journal_title：Muscle & nerve

authors： Zwarts MJ,Guechev A

更新日期：1995-11-01 00:00:00

abstract：INTRODUCTION:We sought to determine whether electrical impedance myography (EIM) could serve as a diagnostic procedure for evaluation of radiculopathy. METHODS:Twenty-seven patients with clinically and radiologically diagnosed cervical or lumbosacral radiculopathy who met a "gold standard" definition underwent EIM and...

journal_title：Muscle & nerve

authors： Spieker AJ,Narayanaswami P,Fleming L,Keel JC,Muzin SC,Rutkove SB

更新日期：2013-11-01 00:00:00

abstract：:We report on five patients who presented with unilateral or bilateral hypoplasia of the thenar eminence. X rays of the affected limbs showed varying degrees of malformation and underdevelopment of the thumb phalanges and first metacarpal bone, and of the carpal bones at the base of the thumb, indicating a developmenta...

journal_title：Muscle & nerve

authors： Cavanagh NP,Yates DA,Sutcliffe J

更新日期：1979-11-01 00:00:00

abstract：:High-density multichannel electromyography (EMG) recordings add spatial information to the temporal information content of the surface EMG (sEMG) signal. This study explores the potential value of such multichannel information at a single motor unit level, in particular for the improvement of motor unit number estimat...

journal_title：Muscle & nerve

authors： Blok JH,Van Dijk JP,Zwarts MJ,Stegeman DF

更新日期：2005-09-01 00:00:00

abstract：BACKGROUND:The goals of this study were to determine whether serum concentrations of endocannabinoids (eCB) and related lipids predict disease status in patients with amyotrophic lateral sclerosis (ALS) relative to healthy controls, and whether concentrations correlate with disease duration and severity. METHODS:Serum...

journal_title：Muscle & nerve

authors： Carter GT,McLaughlin RJ,Cuttler C,Sauber GJ,Weeks DL,Hillard CJ,Weiss MD

更新日期：2021-01-01 00:00:00

abstract：:Diagnosis of multifocal motor neuropathy (MMN), a syndrome characterized by progressive asymmetric weakness with intact sensation, is important because the disorder often responds to treatment. Multifocal partial motor conduction block (PMCB) has been emphasized as a cardinal feature in the diagnosis of this syndrome,...

journal_title：Muscle & nerve

authors： Chaudhry V,Corse AM,Cornblath DR,Kuncl RW,Freimer ML,Griffin JW

更新日期：1994-02-01 00:00:00

abstract：:There is evidence that growth hormone may be related to the progression of weakness in Duchenne dystrophy. We conducted a 12-month controlled trial of mazindol, a putative growth hormone secretion inhibitor, in 83 boys with Duchenne dystrophy. Muscle strength, contractures, functional ability and pulmonary function we...

journal_title：Muscle & nerve

authors： Griggs RC,Moxley RT 3rd,Mendell JR,Fenichel GM,Brooke MH,Miller PJ,Mandel S,Florence J,Schierbecker J,Kaiser KK

更新日期：1990-12-01 00:00:00

abstract：:Somatosensory evoked potentials (SEPs) and motor evoked potentials (MEPs) to transcranial and spinal stimulation from upper and lower limb muscles were elicited in 13 patients with syringomyelia. Seven had an associated Chiari type I anomaly. Diagnosis was confirmed by MRI. In 5 cases, SEPs and MEPs were performed bef...

journal_title：Muscle & nerve

authors： Nogués MA,Pardal AM,Merello M,Miguel MA

更新日期：1992-09-01 00:00:00

abstract：:A 3-month-old boy with hypotonia at birth succumbed to a congenital myopathy. The major finding in his muscle biopsy corresponded to I-Z-I complexes described previously in embryonic skeletal muscle. A few previous myopathy cases have described findings suggestive of I-Z-I-like complexes. A mutation affecting mononucl...

journal_title：Muscle & nerve

authors： Rhodes RH,Sharer LR

更新日期：2010-05-01 00:00:00

abstract：INTRODUCTION:In this study we noninvasively evaluated skeletal muscle mitochondrial capacity, muscle-specific endurance, and energy/fatigue feelings in persons with Friedreich ataxia (FRDA) and able-bodied controls (AB). METHODS:Forearm mitochondrial capacity was measured in FRDA (n = 16) and AB (n = 10) study partici...

journal_title：Muscle & nerve

authors： Bossie HM,Willingham TB,Schoick RAV,O'Connor PJ,McCully KK

更新日期：2017-10-01 00:00:00

abstract：:Muscle weakness in myasthenia gravis is due to autoantibody-induced loss of functional acetylcholine receptors (AChR). About 15% of myasthenia gravis patients, however, do not have detectable anti-AChR antibodies. To investigate the effect of their plasma immunoglobulins on neuromuscular transmission, mice were inject...

journal_title：Muscle & nerve

authors： Burges J,Vincent A,Molenaar PC,Newsom-Davis J,Peers C,Wray D

更新日期：1994-12-01 00:00:00

abstract：INTRODUCTION:Factors determining response to intravenous immunoglobulin (IVIg) and plasmapheresis in myasthenia gravis (MG) have not been evaluated systematically. METHODS:This study included patients treated with IVIg (n = 63) or plasmapheresis (n = 42) from two trials evaluating IVIg vs. placebo or plasmapheresis in...

journal_title：Muscle & nerve

authors： Katzberg HD,Barnett C,Bril V

更新日期：2012-05-01 00:00:00

abstract：INTRODUCTION:A randomized trial demonstrated benefit from thymectomy in nonthymomatous acetylcholine receptor (AChR)-antibody positive myasthenia gravis (MG). Uncontrolled observational and histologic studies suggest thymectomy may not be efficacious in anti-muscle-specific kinase (MuSK)-MG. METHODS:The therapeutic im...

journal_title：Muscle & nerve

authors： Clifford KM,Hobson-Webb LD,Benatar M,Burns TM,Barnett C,Silvestri NJ,Howard JF Jr,Visser A,Crum BA,Nowak R,Beekman R,Kumar A,Ruzhansky K,Chen IA,Pulley MT,Laboy SM,Fellman MA,Howard DB,Kolb NA,Greene SM,Pasnoor M

更新日期：2019-04-01 00:00:00

abstract：INTRODUCTION:Anecdotal reports from families and care providers suggest a wide variation in services received by individuals with Duchenne/Becker muscular dystrophy (DBMD). METHODS:We documented the type and frequency of health services received by individuals with DBMD using the Muscular Dystrophy Surveillance Tracki...

journal_title：Muscle & nerve

authors： Pandya SK,Campbell KA,Andrews JG,Meaney FJ,Ciafaloni E

更新日期：2016-02-01 00:00:00

abstract：INTRODUCTION:Topical application of lidocaine-and-prilocaine (LP) cream attenuates the functionality of small cutaneous nerve fibers. The aim of this human study was to measure the underlying excitability modulation of small cutaneous nerve fibers using a novel and fast perception threshold tracking (PTT) technique. M...

journal_title：Muscle & nerve

authors： Nielson Hoberg T,Frahm S,Hennings K,Arendt-Nielsen L,Dahl Mørch C

更新日期：2019-10-01 00:00:00

abstract：:The findings in two cases of congenital myasthenia investigated by intercostal muscle biopsy are presented. The first case, a 16-year-old boy, showed reduced miniature endplate potential amplitude and normal 125I-alpha-bungarotoxin binding to postsynaptic acetylcholine receptors. Muscle biopsy and endplate ultrastruct...

journal_title：Muscle & nerve

authors： Lecky BR,Morgan-Hughes JA,Murray NM,Landon DN,Wray D,Prior C

更新日期：1986-03-01 00:00:00