Physical function and mobility in children with congenital myotonic dystrophy.

Abstract:

INTRODUCTION:Congenital myotonic dystrophy (CDM) occurs when symptoms of myotonic dystrophy present at birth. In this study we evaluated the relationship between physical function, muscle mass, and age to provide an assessment of the disease and help prepare for therapeutic trials. METHODS:CDM participants performed timed functional tests (TFTs), the first 2 minutes of 6-minute walk tests (2/6MWTs), and myometry tests, and also performed dual-energy X-ray absorption (DEXA) scans. Healthy controls (HCs) performed TFTs, 6MWTs, and myometry. RESULTS:Thirty-seven children with CDM and 27 HCs (age range 3-13 years) participated in the study. There were significant differences in the 10-meter walk (11.3 seconds in CDM vs. 6.8 seconds in HC) and 2MWT (91 meters in CDM vs. 193 meters in HCs). DEXA lean mass of the right arm correlated with grip strength (r = 0.91), and lean mass of the right leg correlated with 6MWT (r = 0.62). CONCLUSION:Children with CDM have significant limitations in strength and mobility. The tests performed were reliable, and lean muscle mass may serve as a useful biomarker. Muscle Nerve 56: 224-229, 2017.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Pucillo EM,Dibella DL,Hung M,Bounsanga J,Crockett B,Dixon M,Butterfield RJ,Campbell C,Johnson NE

doi

10.1002/mus.25482

subject

Has Abstract

pub_date

2017-08-01 00:00:00

pages

224-229

issue

2

eissn

0148-639X

issn

1097-4598

journal_volume

56

pub_type

杂志文章
  • Electrical stimulation impairs early functional recovery and accentuates skeletal muscle atrophy after sciatic nerve crush injury in rats.

    abstract::Neuromuscular recovery after peripheral nerve lesion depends on the regeneration of severed axons that re-establish their functional connection with the denervated muscle. The aim of this study was to determine the effects of electrical stimulation (ES) on the neuromuscular recovery after nerve crush injury in rats. E...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21549

    authors: Gigo-Benato D,Russo TL,Geuna S,Domingues NR,Salvini TF,Parizotto NA

    更新日期:2010-05-01 00:00:00

  • Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

    abstract:INTRODUCTION:We sought to define the whole-body MRI (WB-MRI) fingerprint of muscle involvement in pediatric LMNA-related dystrophy (LMNA-RD) and to compare it with SEPN1-related myopathy (SEPN1-RM). METHODS:Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA-RD ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.25018

    authors: Gómez-Andrés D,Dabaj I,Mompoint D,Hankiewicz K,Azzi V,Ioos C,Romero NB,Ben Yaou R,Bergounioux J,Bonne G,Richard P,Estournet B,Yves-Carlier R,Quijano-Roy S

    更新日期:2016-08-01 00:00:00

  • Magnetic resonance imaging of muscle injury and atrophy in glycolytic myopathies.

    abstract::Exertional muscle pain, contractures, recurrent rhabdomyolysis, and pigmenturia are common in certain muscle glycolytic disorders. However, the frequency, distribution, and long-term significance of these findings are poorly understood. First we performed magnetic resonance imaging (MRI) of the extremities as a screen...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880121011

    authors: Fleckenstein JL,Peshock RM,Lewis SF,Haller RG

    更新日期:1989-10-01 00:00:00

  • Recombinant growth hormone treatment of amyotrophic lateral sclerosis.

    abstract::Based on the known trophic effects of growth hormone (GH) on nerve and muscle 75 patients with ALS were treated for up to 18 months with synthetic human growth hormone (Protropin) or a placebo. The course of ALS was assessed serially using a quantitative (TQNE) neuromuscular and manual exam (MRC) and laboratory chemis...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1002/mus.880160608

    authors: Smith RA,Melmed S,Sherman B,Frane J,Munsat TL,Festoff BW

    更新日期:1993-06-01 00:00:00

  • Interaction of monoclonal antibodies to Torpedo acetylcholine receptor with the receptor of skeletal muscle.

    abstract::Several monoclonal antibodies (mcAbs) elicited against the nicotinic acetylcholine receptor (AChR) from Torpedo react also with skeletal muscle AChR. Such mcAbs were used to define antigenic determinants on muscle AChR and to elucidate their effect on muscle AChR functions. Primary chick muscle cultures were used as a...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880060410

    authors: Souroujon MC,Mochly-Rosen D,Gordon AS,Fuchs S

    更新日期:1983-05-01 00:00:00

  • Changes in Na(+) channel expression and nodal persistent Na(+) currents associated with peripheral nerve regeneration in mice.

    abstract::Patients with peripheral neuropathy frequently suffer from positive sensory (pain and paresthesias) and motor (muscle cramping) symptoms even in the recovery phase of the disease. To investigate the pathophysiology of increased axonal excitability in peripheral nerve regeneration, we assessed the temporal and spatial ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21031

    authors: Nakata M,Baba H,Kanai K,Hoshi T,Sawai S,Hattori T,Kuwabara S

    更新日期:2008-06-01 00:00:00

  • Transient focal conduction block following experimental occlusion of the vasa nervorum.

    abstract::Injection of low-dose arachidonic acid into the rat femoral artery occludes the vasa nervorum of the tibial nerve and produces focal and generalized ischemia with transient effects on nerve conduction. Across a severely ischemic segment of the proximal tibial nerve there is a marked fall in amplitude of the compound m...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880090411

    authors: Parry GJ,Linn DJ

    更新日期:1986-05-01 00:00:00

  • Central conduction and autonomic nervous function in HMSN I.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.880141106

    authors: Solders G,Andersson T,Persson A

    更新日期:1991-11-01 00:00:00

  • Function of death-associated protein 1 in proliferation, differentiation, and apoptosis of chicken satellite cells.

    abstract:INTRODUCTION:Muscle growth and regeneration are processes closely associated with proliferation, differentiation, and apoptosis of muscle cells. Death-associated protein 1 (DAP1) has been identified as a negative regulator of autophagy. Little is known about the function of DAP1 in the regulation of myogenesis and sate...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.23832

    authors: Shin J,McFarland DC,Strasburg GM,Velleman SG

    更新日期:2013-11-01 00:00:00

  • MRI of the brachial plexus in polyneuropathy associated with monoclonal gammopathy.

    abstract::On magnetic resonance (MR) imaging of the brachial plexus increased signal intensity and swelling of the brachial plexus has been found in chronic inflammatory demyelinating polyneuropathy (CIDP). Whether these proximal abnormalities are also present in the distal polyneuropathy associated with monoclonal gammopathy i...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.1149

    authors: Eurelings M,Notermans NC,Franssen H,Van Es HW,Ramos LM,Wokke JH,van den Berg LH

    更新日期:2001-10-01 00:00:00

  • Mononeuropathy multiplex associated with acute hepatitis B infection.

    abstract::Immunologic syndromes are associated with hepatitis B viral (HBV) infection. However, mononeuropathy multiplex (MM), a syndrome in which immune factors may play a role, is rare in acute HBV infection. Few cases of MM associated with HBV infection have been reported. We report a case of acute HBV infection in which MM ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880130304

    authors: Cohen JA,Wilborn SL,Rector WG Jr,Golitz LE

    更新日期:1990-03-01 00:00:00

  • Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis.

    abstract:INTRODUCTION:We aimed to investigate whether sonographic peripheral cross-sectional nerve area (CSA) and progranulin (PGRN), a neuritic growth factor, are related to each other and whether they interact to predict clinical and paraclinical measures in amyotrophic lateral sclerosis (ALS). METHODS:We included 55 ALS pat...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.25682

    authors: Schreiber S,Debska-Vielhaber G,Abdulla S,Machts J,Schreiber F,Kropf S,KÖrtvelyessy P,KÖrner S,Kollewe K,Petri S,Dengler R,Kunz WS,Nestor PJ,Vielhaber S

    更新日期:2018-02-01 00:00:00

  • Safety and efficacy of strength training in patients with sporadic inclusion body myositis.

    abstract::We studied the effects of a 12-week progressive resistance strength training program in weakened muscles of 5 patients with sporadic inclusion body myositis (IBM). Strength was evaluated with Medical Research Council (MRC) scale ratings and quantitative isometric and dynamic tests. Changes in serum creatine kinase (CK...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199710)20:10<1242::aid-mus

    authors: Spector SA,Lemmer JT,Koffman BM,Fleisher TA,Feuerstein IM,Hurley BF,Dalakas MC

    更新日期:1997-10-01 00:00:00

  • Creatine kinase activity in normal and Duchenne muscular dystrophy fibroblasts.

    abstract::Cultured human skin fibroblasts from 9 patients with Duchenne muscular dystrophy (DMD) and 8 normal age- and sex-matched controls were examined for creatine kinase (CK) activity. Both the normal and the DMD fibroblasts were found to have significant levels of CK activity (approximately 10 x 10(-3) IU per milligram of ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880050102

    authors: Davis MH,Cappel R,Vester JW,Samaha FJ,Gruenstein E

    更新日期:1982-01-01 00:00:00

  • Accuracy of electromyography needle placement in cadavers: non-guided vs. ultrasound guided.

    abstract:INTRODUCTION:Accuracy of needle electromyography is typically ensured by use of anatomical landmarks and auditory feedback related to voluntary activation of the targeted muscle; however, in certain clinical situations, landmarks may not be palpable, auditory feedback may be limited or not present, and targeting a spec...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22008

    authors: Boon AJ,Oney-Marlow TM,Murthy NS,Harper CM,McNamara TR,Smith J

    更新日期:2011-07-01 00:00:00

  • Application of futility analysis to refine jitter recordings in myasthenia gravis.

    abstract:INTRODUCTION:The current practice of single-fiber electromyography (SFEMG) requires that 20 fiber pairs with normal jitter be collected to exclude myasthenia gravis (MG). We applied principles of futility analysis from clinical trials in an attempt to reduce that requirement. METHODS:We utilized conditional power futi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22340

    authors: Narayanaswami P,Pantoja-Galicia N,Betensky RA,Rutkove SB

    更新日期:2012-04-01 00:00:00

  • Coexistent autoimmune autonomic ganglionopathy and myasthenia gravis associated with non-small-cell lung cancer.

    abstract::We report the case of a 55-year-old man with non-small-cell lung cancer who underwent radiation, chemotherapy with carbotaxol and paclitaxel, and left upper lobe removal 2 years prior to evaluation. He was referred for disabling orthostatic hypotension (113/69 mm Hg supine and 66/47 mm Hg standing after 10 minutes) wi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21528

    authors: Peltier AC,Black BK,Raj SR,Donofrio P,Robertson D,Biaggioni I

    更新日期:2010-03-01 00:00:00

  • Switching stimulation patterns improves performance of paralyzed human quadriceps muscle.

    abstract::The clinical efficacy of functional electrical stimulation (FES) is limited by the rapid onset of fatigue. Functional electrical stimulation applications typically stimulate skeletal muscles with constant-frequency trains (CFTs). Our laboratory has identified trains that we call doublet-frequency trains (DFTs) and tha...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20300

    authors: Scott WB,Lee SC,Johnston TE,Binder-Macleod SA

    更新日期:2005-05-01 00:00:00

  • Helix-loop-helix transcription factors in electrically active and inactive skeletal muscles.

    abstract::The muscle-specific helix-loop-helix (HLH) transcription factors myoD, myogenin, MRF4, and myf-5 are called the muscle regulatory factor family (MRF). Levels of MRFs are strongly regulated by muscle electrical activity and are thought to control downstream genes that are important for muscle phenotype such as the acet...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/1097-4598(200009)23:9<1374::aid-mus8>3.0.c

    authors: Carlsen H,Gundersen K

    更新日期:2000-09-01 00:00:00

  • Diagnostic yield of stimulation and voluntary single-fiber electromyography in myasthenia gravis.

    abstract::Voluntary and stimulation single-fiber electromyography were performed in the extensor digitorum communis muscle of 15 myasthenic patients. The increase in mean and individual mean consecutive difference as well as the proportion of blocking in the volitional activation were greater than in the stimulation method. The...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199808)21:8<1081::aid-mus1

    authors: Murga L,Sánchez F,Menéndez C,Castilla JM

    更新日期:1998-08-01 00:00:00

  • Electromyographic and morphological functional compensation in late poliomyelitis.

    abstract::Patients with prior poliomyelitis may experience muscle function deterioration decades after onset of disease. The present study is aimed at describing electromyographic and morphometric evidence of muscular compensation and of on-going muscular instability. Ten subjects 42-62 years of age with onset of polio 25-52 ye...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章

    doi:10.1002/mus.880130214

    authors: Einarsson G,Grimby G,Stålberg E

    更新日期:1990-02-01 00:00:00

  • Effects of superimposed electrical stimulation on perceived discomfort and torque increment size and variability.

    abstract::Superimposed electrical stimulation techniques can be used to detect central activation failure (CAF), that is, incomplete central nervous system recruitment or suboptimal activation of motor units. The purpose of this study was to evaluate the effects of two stimulation parameters on perceived discomfort and torque i...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.10289

    authors: Miller M,Downham D,Lexell J

    更新日期:2003-01-01 00:00:00

  • COVID-19-associated Guillain-Barré syndrome: The early pandemic experience.

    abstract::Guillain-Barré syndrome (GBS) is an inflammatory polyradiculoneuropathy associated with numerous viral infections. Recently, there have been many case reports describing the association between coronavirus disease-2019 (COVID-19) and GBS, but much remains unknown about the strength of the association and the features ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.27024

    authors: Caress JB,Castoro RJ,Simmons Z,Scelsa SN,Lewis RA,Ahlawat A,Narayanaswami P

    更新日期:2020-10-01 00:00:00

  • Midbrain vs. pontine medial longitudinal fasciculus lesions: the utilization of masseter and blink reflexes.

    abstract::Masseter (MR) and blink reflexes (BL) were investigated in 51 patients with internuclear ophthalmoplegia (INO) due to multiple sclerosis (28) and lacunar infarction (23). The MR was abnormal in 20 of 23 cases with bilateral INO and in 21 of 28 with unilateral INO. The R1 component of the BL (BL-R1) was abnormal in 7 o...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880140406

    authors: Hopf HC,Thömke F,Gutmann L

    更新日期:1991-04-01 00:00:00

  • Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.

    abstract::Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C-terminus. We have performed a mutation screen involving the whole CLCN1 gene of patien...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20005

    authors: Chen L,Schaerer M,Lu ZH,Lang D,Joncourt F,Weis J,Fritschi J,Kappeler L,Gallati S,Sigel E,Burgunder JM

    更新日期:2004-05-01 00:00:00

  • Myositis with antimitochondrial antibodies diagnosed by rectus abdominis muscle biopsy.

    abstract:INTRODUCTION:Antimitochondrial antibodies are autoantibodies detected in 90% of primary biliary cirrhosis (PBC) patients. Some PBC cases are complicated by myositis, which is difficult to confirm due to minimal histological evidence of inflammation in limb muscles. METHODS:Our aim was to determine the extent of inflam...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.23730

    authors: Uenaka T,Kowa H,Sekiguchi K,Nagata K,Ohtsuka Y,Kanda F,Toda T

    更新日期:2013-05-01 00:00:00

  • Nerve conduction studies in amyotrophic lateral sclerosis.

    abstract::We studied 137 ulnar nerves and abductor digiti minimi (ADM) muscles in 70 patients with amyotrophic lateral sclerosis (ALS), and correlated the results with ADM strength graded on the Medical Research Council (MRC) scale, to address the potential value of a standardized neurophysiological assessment of this nerve-mus...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(200003)23:3<344::aid-mus5>

    authors: de Carvalho M,Swash M

    更新日期:2000-03-01 00:00:00

  • Early changes of muscle insulin-like growth factor-1 and myostatin gene expression in gastric cancer patients.

    abstract:INTRODUCTION:Cachexia increases morbidity and mortality of cancer patients. The progressive loss of muscle mass negatively affects physical function and quality of life. We previously showed reduced muscle insulin-like growth factor-1 (IGF-1) expression and enhanced myostatin signaling in tumor-bearing animals. This st...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.23798

    authors: Bonetto A,Penna F,Aversa Z,Mercantini P,Baccino FM,Costelli P,Ziparo V,Lucia S,Rossi Fanelli F,Muscaritoli M

    更新日期:2013-09-01 00:00:00

  • Concentric-needle single-fiber electromyography for the diagnosis of myasthenia gravis.

    abstract::The goal of this study was to estimate the accuracy of concentric-needle single-fiber electromyography (CN-SFEMG) for the diagnosis of myasthenia gravis (MG). A consecutive series of patients referred for CN-SFEMG was evaluated by an investigator blinded to the results of CN-SFEMG in order to determine the presence or...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20568

    authors: Benatar M,Hammad M,Doss-Riney H

    更新日期:2006-08-01 00:00:00

  • Adjustments in the force-frequency relationship during passive and exercise-induced hyperthermia.

    abstract:INTRODUCTION:We examined the extent to which fatiguing cycling exercise in the heat influences contractile function in modulating the force-frequency relationship. METHODS:Before (∽37.0 °C) and after (∽38.5 °C) exercise (ExH) and passive (PaH) hyperthermia, an 8-s train of stimulation at 10, 20, 50, and 100 Hz (2 s pe...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.24228

    authors: Périard JD,Racinais S,Thompson MW

    更新日期:2014-11-01 00:00:00