3,276 results match your criteria Neuromuscular Disorders [Journal]


Wrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy.

Neuromuscul Disord 2019 Feb 19. Epub 2019 Feb 19.

Departamento de Ciencias Neurológicas, Facultad de Medicina, Universidad de Chile, Avda Infante 553, Providencia, Santiago, Chile.

Bilateral simultaneous radial palsy is uncommon, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch or birthing bar during labor. We present a patient who developed a severe bilateral palsy after playing in a dancing simulator machine. The patient's position during the game was a combination of wrist extension, elbow flexion, retroversion of arms and a degree of minor torsion of both upper limbs. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.02.005DOI Listing
February 2019

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

Neuromuscul Disord 2019 Feb 20. Epub 2019 Feb 20.

Friedrich-Baur-Institute, Dep. of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstraße 1A, 80336 Munich, Germany. Electronic address:

Neurofilaments are structural components of motor axons. Recently different variants resulting in translation of a cryptic amyloidogenic element of the neurofilament-heavy polypeptide (NEFH) gene have been described to cause Charcot-Marie-Tooth disease type 2CC (CMT2CC) by forming amyloidogenic toxic protein aggregation. Until now only few CMT2CC patients have been described. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.02.007DOI Listing
February 2019

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.

Neuromuscul Disord 2019 Mar 2. Epub 2019 Mar 2.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1). Disease-onset spans from prenatal life to adulthood and weakness can preferentially affect proximal or distal muscles. Myopathological findings include a spectrum of structural abnormalities with nemaline rods being the most common. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183127
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http://dx.doi.org/10.1016/j.nmd.2019.02.012DOI Listing
March 2019
3 Reads

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia.

Neuromuscul Disord 2019 Feb 25. Epub 2019 Feb 25.

Division of Neurochemistry, Institute of Experimental Epileptology and Cognition Research, University of Bonn, Sigmund-Freud-Str. 25, D-53105 Bonn, Germany; Department of Epileptology, University of Bonn, Germany. Electronic address:

Chronic progressive external ophthalmoplegia (CPEO) is a frequent clinical manifestation of disorders caused by pathogenic mitochondrial DNA mutations. However, for diagnostic purposes skeletal muscle tissue is used, since extraocular muscle tissue is usually not available for work-up. In the present study we aimed to identify causative factors that are responsible for extraocular muscle to be primarily affected in CPEO. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.02.009DOI Listing
February 2019

237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018.

Neuromuscul Disord 2019 Mar 2. Epub 2019 Mar 2.

Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany; Centro Nacional de Análisis Genómico, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Baldri I reixac 4, 08028 Barcelona, Spain; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, K1Y 4E9, Canada.

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http://dx.doi.org/10.1016/j.nmd.2019.02.010DOI Listing
March 2019
2.638 Impact Factor

Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy.

Neuromuscul Disord 2019 Apr 2;29(4):321-329. Epub 2019 Mar 2.

Center of Excellence for Rehabilitation Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, and De Hoogstraat Rehabilitation, Utrecht, The Netherlands; Department of Rehabilitation, Physical Therapy Science and Sports, Brain Center Rudolf Magnus, University Medical Center Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands.

Proximal spinal muscular atrophy (SMA) causes severe physical limitations but also has a major impact on the lives of parents. The aim of this study was to investigate participation and mental well-being (burden, emotional distress and satisfaction with participation) of parents of home-living patients with SMA. Caregiver burden was assessed with the Caregiver Strain Index, emotional distress with the Hospital Anxiety and Depression Scale and satisfaction with participation with the Utrecht Scale for Evaluation of Rehabilitation-Participation. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.02.011DOI Listing
April 2019
1 Read

Fractures and bone health in Duchenne muscular dystrophy in Scotland.

Neuromuscul Disord 2019 Apr 20;29(4):342. Epub 2019 Feb 20.

Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.02.008DOI Listing
April 2019
1 Read

First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features.

Neuromuscul Disord 2019 Apr 25;29(4):317-320. Epub 2019 Jan 25.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with genetically confirmed Becker muscular dystrophy. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.01.006DOI Listing

Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study.

Neuromuscul Disord 2019 Apr 2;29(4):310-316. Epub 2019 Feb 2.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy; Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy.

Charcot-Marie-Tooth (CMT) is the most common inherited neuropathy, yet has no available pharmacological therapy. Past pharmacotherapy trials failed to provide positive results, possibly due to a poor choice of outcome measures. We previously performed a study in which we validated the 6-minute walk test and StepWatch™ Activity Monitor in CMT. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.01.009DOI Listing
April 2019
1 Read

Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes.

Neuromuscul Disord 2019 Apr 19;29(4):290-295. Epub 2019 Feb 19.

Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Cardiac autonomic dysfunction has been examined in myasthenia gravis but not in congenital myasthenic syndromes (CMS). We aimed to evaluate cardiac autonomic functions in genetically defined CMS. Patients diagnosed with and under treatment for CMS were reviewed for 24-hour cardiac rhythm monitoring. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.02.004DOI Listing
April 2019
1 Read
2.638 Impact Factor

Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I.

Neuromuscul Disord 2019 Apr 19;29(4):302-309. Epub 2019 Feb 19.

Institute for Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Muenster, Germany. Electronic address:

Patients with myotonic dystrophy type I (DM1) may develop nocturnal hypoventilation, requiring non-invasive ventilation. Data on long-term adherence to non-invasive ventilation, or sleep and ventilation outcomes are scarce. We retrospectively collected baseline polysomnography and capnometry results from 36 adult patients with sleep-related symptoms (42. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183125
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http://dx.doi.org/10.1016/j.nmd.2019.02.006DOI Listing
April 2019
5 Reads

"The impact of European Neuromuscular Centre (ENMC) workshops on the neuromuscular field; 25 years on …".

Neuromuscul Disord 2019 Apr 7;29(4):330-340. Epub 2019 Feb 7.

Spierziekten Nederland, Baarn, The Netherlands.

Since 1992, the European Neuromuscular Centre facilitated workshops to bring experts in the field of neuromuscular disorders together. After organising more than 235 workshops, it is time to evaluate what impact these 25 years of ENMC workshops have had on the neuromuscular research field and on people affected by a neuromuscular condition. To measure this, workshop topics were retrospectively evaluated and bibliometric analyses on the citation scores of ENMC-derived publications were performed. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.01.008DOI Listing
April 2019
4 Reads

Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy.

Neuromuscul Disord 2019 Apr 22;29(4):274-281. Epub 2018 Nov 22.

Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul, Republic of Korea. Electronic address:

ADSSL1 myopathy was recently identified as the cause of muscular disorders in Korean patients with distal myopathy. We generated transcriptome profiles of muscles from control subjects and patients with ADSSL1 myopathy. In the present study, RNA sequencing was conducted with seven vastus lateralis muscle samples from four patients with ADSSL1 myopathy and three control subjects. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.003DOI Listing

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study.

Neuromuscul Disord 2019 Apr 19;29(4):261-268. Epub 2019 Feb 19.

NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, Great Ormond Street Hospital Trust, University College London, London, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital Trust, London, UK. Electronic address:

The field of translational research in Duchenne muscular dystrophy (DMD) has been transformed in the last decade by a number of therapeutic targets, mostly studied in ambulant patients. A paucity of studies focus on measures that capture the non-ambulant stage of the disease, and the transition between the ambulant and non-ambulant phase. In this prospective natural history study, we report the results of a comprehensive assessment of respiratory, upper limb function and upper limb muscle strength in a group of 89 DMD boys followed in 3 European countries, 81 receiving corticosteroids, spanning a wide age range (5-18 years) and functional abilities, from ambulant (n = 60) to non-ambulant (n = 29). Read More

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http://dx.doi.org/10.1016/j.nmd.2019.02.002DOI Listing
April 2019
1 Read

Mitochondrial DNA depletion in sporadic inclusion body myositis.

Neuromuscul Disord 2019 Mar 10;29(3):242-246. Epub 2019 Feb 10.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Pb 7804, 5020, Norway. Electronic address:

Sporadic inclusion body myositis (sIBM) is a late onset disorder of unkown aetiology. Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised feature and mitochondrial DNA (mtDNA) deletions have also been reported, but not consistently. Since mtDNA deletions are not present in all cases, we investigated whether other types of mtDNA abnormality were responsible for the mitochondrial changes. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.02.001DOI Listing
March 2019
1 Read

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy.

Neuromuscul Disord 2019 Mar 2;29(3):221-230. Epub 2019 Feb 2.

Telethon Kids Institute, University of Western Australia, PO Box 855, West Perth, WA 6872, Australia; School of Physiotherapy and Exercise Science, Curtin University, GPO Box U1987, Perth, WA 6845, Australia. Electronic address:

Duchenne muscular dystrophy is a common neuromuscular disorder involving progressive muscle weakness. A powered wheelchair standing device provides capacity to stand despite increasing muscle weakness. This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.01.010DOI Listing
March 2019
2 Reads
2.638 Impact Factor

236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1-3 June 2018.

Neuromuscul Disord 2019 Mar 12;29(3):251-259. Epub 2019 Jan 12.

MRC Centre for Neuromuscular Disease and Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.01.002DOI Listing
March 2019
4 Reads

Fractures and bone health in Duchenne muscular dystrophy in Scotland.

Authors:
Haluk Topaloğlu

Neuromuscul Disord 2019 Apr 17;29(4):341. Epub 2018 Nov 17.

Hacettepe Children's Hospital, 06100 Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.11.005DOI Listing

Various effects of AAV9-mediated βARKct gene therapy on the heart in dystrophin-deficient (mdx) mice and δ-sarcoglycan-deficient (Sgcd-/-) mice.

Neuromuscul Disord 2019 Mar 20;29(3):231-241. Epub 2018 Dec 20.

Internal Medicine III, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Germany; Department of Internal Medicine III, University of Kiel, Arnold-Heller-Str. 3, 24105 Kiel, Germany.

So far effective strategies to treat cardiomyopathy in patients with muscular dystrophies are still not clearly defined. Previously, treatment with β-blockers showed beneficial effects on the development of cardiomyopathy in dystrophin-deficient (mdx) mice, but not in δ-sarcoglycan-deficient (Sgcd-/-) mice. We therefore aimed to study a more specific approach to target maladaptive β-adrenergic signalling in these mice. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.006DOI Listing

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Neuromuscul Disord 2019 Mar 17;29(3):167-186. Epub 2018 Dec 17.

Erasmus Medical Center, Pompe Center, Rotterdam, The Netherlands.

This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, received every-other-week avalglucosidase alfa 5, 10, or 20 mg/kg over 24 weeks. 9/10 Naïve and 12/14 Switch patients completed the study. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.004DOI Listing
March 2019
2 Reads

Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.

Neuromuscul Disord 2019 Mar 15;29(3):187-191. Epub 2018 Dec 15.

Unidad de Oncogenética Molecular, Instituto de Genética Médica y Molecular (INGEMM), Edificio Quirúrgico Planta-2, Hospital Universitario La Paz, 28046 Madrid, Spain; Department of Biochemistry, Faculty of Medicine, Autonoma University of Madrid, 28046 Madrid, Spain. Electronic address:

Glycogen storage disease type II, or Pompe disease, is an autosomal recessive disorder caused by deficiency of lysosomal acid alpha-glucosidase (GAA). We performed genetic analysis to confirm the diagnosis of Pompe disease in a 61-year-old patient with progressive weakness in extremities, severe Sleep Apnea-Hypopnea Syndrome, a significant reduction of alpha-glucosidase in liquid sample of peripheral blood and muscular biopsy diagnosis. GAA gene sequencing showed the patient is homozygous for the splice-site mutation c. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.003DOI Listing
March 2019
1 Read

Respiratory dysfunction in myotonic dystrophy type 1: A systematic review.

Neuromuscul Disord 2019 Mar 9;29(3):198-212. Epub 2018 Dec 9.

School of Medicine, Griffith University, Gold Coast, Queensland, Australia; Department of Medicine, Logan Hospital, Meadowbrook, Queensland, Australia.

Myotonic dystrophy type 1 (DM1) is one of the most common muscular dystrophies in adults. This review summarises the current literature regarding the natural history of respiratory dysfunction in DM1, the role of central respiratory drive and peripheral respiratory muscle involvement and its significance in respiratory function, and investigates the relationship between genetics (CTG repeat length) and respiratory dysfunction. The review included all articles that reported spirometry on 10 or more myotonic dystrophy patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183044
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http://dx.doi.org/10.1016/j.nmd.2018.12.002DOI Listing
March 2019
3 Reads

Neuromuscular disorders in Anatolia - A personal review.

Authors:
Haluk Topaloğlu

Neuromuscul Disord 2019 Feb 28;29(2):152-156. Epub 2018 Dec 28.

Hacettepe Children's Hospital, 06100 Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.12.014DOI Listing
February 2019

Colonic distension treatment in Duchenne muscular dystrophy.

Neuromuscul Disord 2019 Feb 3;29(2):157-158. Epub 2018 Nov 3.

FCCP Internacional Fellow AARC, Intensive Care Unit, Hospital Morales Meseguer, Murcia, Spain.

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http://dx.doi.org/10.1016/j.nmd.2018.10.004DOI Listing
February 2019
5 Reads

Colonic distension treatment in Duchenne muscular dystrophy - response.

Neuromuscul Disord 2019 Feb 8;29(2):159. Epub 2018 Dec 8.

U.O. Fisiopatologia Respiratoria, Azienda Ospedaliera di Padova, Via Giustiniani, 2, 35128 Padova, Italy.

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http://dx.doi.org/10.1016/j.nmd.2018.10.008DOI Listing
February 2019
2.638 Impact Factor

Neuromuscular disorders in Israel: A model country for ethnic clusters.

Authors:
Zohar Argov

Neuromuscul Disord 2019 Apr 11;29(4):269-273. Epub 2019 Jan 11.

Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966193001
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http://dx.doi.org/10.1016/j.nmd.2019.01.003DOI Listing
April 2019
7 Reads

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.

Neuromuscul Disord 2019 Apr 6;29(4):282-289. Epub 2019 Jan 6.

Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China. Electronic address:

The congenital disorders of glycosylation are a group of clinically and biochemically heterogeneous diseases characterized by multisystem involvement due to glycosylation defect of protein and lipid. Here we report a 49-year-old man with exercise-induced fatigue and pain of muscle, tachypnea, cleft palate and bifid uvula. Exercise induced elevation of serum creatine kinase (CK), ammonia and lactic acid was recorded. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.01.001DOI Listing
April 2019
1 Read
2.638 Impact Factor

Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.

Neuromuscul Disord 2019 Mar 10;29(3):247-250. Epub 2018 Dec 10.

Department of Neurology, Unidad de Neuromuscular, Hospital Universitario 12 de Octubre, Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Spain.

In a previous report of a new phenotype with predominant scapulo-humeral-peroneal-distal myopathy associated with the Glu197Asp mutation in ACTA1, muscle biopsies did not show nemaline rods, nor could nemaline rods formation be demonstrated in an exhaustive functional in vivo or in vitro study. However, muscle biopsy in members of our family, carrying a similar clinical phenotype of some members of the original family and the same ACTA1 mutation, revealed the presence of numerous nemaline rods, suggesting that there must be other factors that explain the absence of nemaline rods. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183113
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http://dx.doi.org/10.1016/j.nmd.2018.12.001DOI Listing
March 2019
7 Reads

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR).

Neuromuscul Disord 2019 Mar 14;29(3):213-220. Epub 2018 Nov 14.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Hereditary transthyretin amyloidosis (hATTR) is a life-threatening multisystemic disease with sensory-motor peripheral neuropathy, cardiomyopathy and dysautonomia. Although the six-minute walk test (6MWT) is one of the most popular clinical tests to assess functional exercise capacity in cardiopulmonary and neuromuscular diseases, little is known about 6MWT in evaluating hATTR patients. A prospective single-center pilot study was performed in twenty hATTR patients, comparing 6MWT with widely used outcome measures. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.002DOI Listing
March 2019
2 Reads

Commentary from the Editor.

Authors:
Victor Dubowitz

Neuromuscul Disord 2019 Jan;29(1):1-4

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http://dx.doi.org/10.1016/j.nmd.2019.01.005DOI Listing
January 2019

Evaluation and validation of sustained upgaze combined with the ice-pack test for ocular myasthenia gravis in Asians.

Neuromuscul Disord 2019 Apr 22;29(4):296-301. Epub 2018 Dec 22.

Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Gyeonggi-do, South Korea.

The accuracy of the ice-pack test for diagnosing myasthenia gravis (MG) has been reported to be excellent, however, the sensitivity is low in patients with mild ptosis which is common in Asians who have absent or low double eyelid folds. Herein, we performed the ice-pack test after sustained upgaze and tested its validity for diagnosing MG. The study included 30 newly diagnosed MG patients with ptosis (median age 47 years, range 2-87 years) and 30 controls with ptosis other than MG (median age 58 years, range 5-83 years). Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.011DOI Listing

Muscle hypertrophy in amyloid myopathy.

Neuromuscul Disord 2019 Feb 21;29(2):150-151. Epub 2018 Dec 21.

Unità Operativa Complessa di Neurologia, Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS - Istituto di Neurologia, Università Cattolica del Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1016/j.nmd.2018.12.010DOI Listing
February 2019
2 Reads
2.638 Impact Factor

Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population.

Neuromuscul Disord 2019 Feb 25;29(2):160-162. Epub 2018 Dec 25.

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http://dx.doi.org/10.1016/j.nmd.2018.12.012DOI Listing
February 2019
3 Reads

Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population - response.

Neuromuscul Disord 2019 Feb 28;29(2):160-162. Epub 2018 Dec 28.

Department of Biological Sciences, Kongju National University, Gongju, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.12.013DOI Listing
February 2019
2 Reads

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Neuromuscul Disord 2019 Feb 20;29(2):97-107. Epub 2018 Dec 20.

The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

We report the first family with a dominantly inherited mutation of the nebulin gene (NEB). This ∼100 kb in-frame deletion encompasses NEB exons 14-89, causing distal nemaline/cap myopathy in a three-generation family. It is the largest deletion characterized in NEB hitherto. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183056
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http://dx.doi.org/10.1016/j.nmd.2018.12.007DOI Listing
February 2019
9 Reads
2.638 Impact Factor

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance.

Neuromuscul Disord 2019 Feb 22;29(2):146-149. Epub 2018 Nov 22.

Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN 55905, USA.

X-linked adrenoleukodystrophy is a peroxisomal disorder caused by a mutation in ABCD1 gene. The three main phenotypes of X-linked adrenoleukodystrophy include cerebral adrenoleukodystrophy, adrenomyeloneuropathy, and isolated primary adrenal insufficiency. More than 750 non-recurrent mutations exist throughout the coding region of the ABCD1 gene. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.007DOI Listing
February 2019
10 Reads

Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C.

Neuromuscul Disord 2019 Feb 29;29(2):138-141. Epub 2018 Nov 29.

Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul, Departamento de Medicina Interna, Faculdade de Medicina, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre, Serviço de Neurologia, Porto Alegre, RS, Brazil. Electronic address:

Charcot Marie Tooth disease type 4C (CMT4C) is considered the most frequent autosomal recessive form of CMT worldwide, being described as an early-onset disorder with marked clinical heterogeneity. We report a CMT4C case associated with dropped head syndrome and predominant involvement of proximal muscles. An 11-year-old boy born to consanguineous parents presented with predominantly proximal muscle weakness with facial involvement, associated with dropped head and severe scoliosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183050
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http://dx.doi.org/10.1016/j.nmd.2018.11.010DOI Listing
February 2019
4 Reads

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Neuromuscul Disord 2019 Feb 21;29(2):134-137. Epub 2018 Dec 21.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415944PMC
February 2019
14 Reads

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Neuromuscul Disord 2019 Feb 20;29(2):108-113. Epub 2018 Dec 20.

Department of Pediatrics, Sahlgrenska Academy, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.

We describe the long-term follow-up of a patient with severe nemaline myopathy due to a novel homozygous mutation in the Leiomodin 3 (LMOD3) gene and describe the histopathological characteristics of the disease. The patient presented at birth with hydrops fetalis, multiple joint contractures, severe generalized muscle weakness, no movement, and respiratory insufficiency. At eight years of age, she had bilateral ophthalmoplegia, visual impairment, multiple contractures, and scoliosis, and is dependent on a home mechanical ventilator and gastrostomy. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.009DOI Listing
February 2019
14 Reads

The clinical management of neuromuscular disorders in intensive care.

Neuromuscul Disord 2019 Feb 18;29(2):85-96. Epub 2018 Dec 18.

Neurology Division of Critical Care Neurology, Mayo Clinic, Rochester, MN, USA.

Life-threatening neuromuscular disorders affect a small, but growing group of patients in the intensive care unit who present special management problems, as well as great therapeutic opportunities. In inflammatory conditions, a cure is often possible, and for chronic, genetic or degenerative conditions, achieving the previous level of function is the target. Neuromuscular experts and intensivists need to cooperate closely to achieve the best possible outcomes. Read More

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February 2019
2 Reads

Autologous hematopoietic stem cell transplantation in a patient with refractory seropositive myasthenia gravis: A case report.

Neuromuscul Disord 2019 Feb 25;29(2):142-145. Epub 2018 Nov 25.

Department of Neurology, Clinica FOSCAL, Bucaramanga, Colombia; Division of Neurology, Department of Internal Medicine, School of Medicine, Universidad Autonoma de Bucaramanga, Bucaramanga, Colombia.

Myasthenia gravis is a neuromuscular autoimmune disease characterized by fatigable weakness of skeletal muscles that results from an antibody-mediated immunological attack directed at acetylcholine postsynaptic receptors. Autologous hematopoietic stem cell transplantation is considered as a treatment option in refractory cases of myasthenia gravis. A 56-year-old Colombian male presented with six months of progressive hoarseness and dysphagia, with a positive repetitive stimulation test suggestive of end plate neuromuscular disease. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.008DOI Listing
February 2019
14 Reads

Clinical spectrum of neuromuscular complications after immune checkpoint inhibition.

Neuromuscul Disord 2019 Feb 3;29(2):127-133. Epub 2018 Dec 3.

Department of Neurology, University of Pittsburgh Medical Center, 3471 Fifth Ave #810, Pittsburgh, PA 15213, United States. Electronic address:

Cancer immunotherapy has transformed the field of oncology and enabled more effective management of previously refractory neoplasms by activation of the immune response. Upregulation of the immune response may also trigger autoimmune adverse events, including neuromuscular complications. We performed a systematic review of autoimmune neuromuscular complications following immune checkpoint blockade. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.012DOI Listing
February 2019
2 Reads

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

Neuromuscul Disord 2019 Jan 13;29(1):48-58. Epub 2018 Sep 13.

School of Physiotherapy, University of Notre Dame Australia, PO Box 1225, Fremantle, Western Australia 6959 Australia.

The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence. This cross-sectional survey investigated non-ambulant youths' mental wellbeing and relationships with physical health, participation and social factors. The conceptual model was the International Classification of Functioning, Disability and Health (ICF). Read More

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http://dx.doi.org/10.1016/j.nmd.2018.08.013DOI Listing
January 2019
5 Reads

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Neuromuscul Disord 2019 Feb 31;29(2):114-126. Epub 2018 Oct 31.

Department of Neuropediatrics, Children's Hospital of the University of Toulouse, 330 Great Britain Avenue, TSA 70034 Toulouse, France.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. We thus conducted a national multicenter observational retrospective study to determine the prognosis of children with SMARD1 according to their phenotype. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.10.002DOI Listing
February 2019
15 Reads

Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.

Neuromuscul Disord 2019 Mar 4;29(3):192-197. Epub 2018 Dec 4.

Dept. Nursing, University of Valencia, Valencia, Spain. Electronic address:

Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e. Read More

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March 2019
1 Read

Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: Clinical features and treatment outcomes in a Chinese cohort.

Neuromuscul Disord 2019 Jan 22;29(1):5-13. Epub 2018 Nov 22.

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, China; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, China; Brain Science Research Institute, Shandong University, Jinan, China. Electronic address:

Anti-mitochondrial antibodies, the hallmark of primary biliary cirrhosis, have been detected in many patients with idiopathic inflammatory myopathies and these anti-mitochondrial-antibody-associated idiopathic inflammatory myopathies frequently show unique characteristics. We detected anti-mitochondrial antibodies in Chinese idiopathic inflammatory myopathy and summarized the clinical findings of these anti-mitochondrial-antibody-positive patients. Of 136 patients, seven (5. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.004DOI Listing
January 2019
4 Reads
2.638 Impact Factor

Myopathies featuring non-caseating granulomas: Sarcoidosis, inclusion body myositis and an unfolding overlap.

Neuromuscul Disord 2019 Jan 9;29(1):39-47. Epub 2018 Nov 9.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Granulomatous myopathies are etiologically heterogeneous myopathies, pathologically characterized by the presence of intramuscular granulomas. Treatment outcomes are variable. We aimed to identify prognostic factors of treatment outcomes in myopathies featuring non-caseating granulomas. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.10.007DOI Listing
January 2019

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

Neuromuscul Disord 2019 Jan 8;29(1):75-79. Epub 2018 Nov 8.

Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Institut de Myologie, CHU La Pitié-Salpêtrière, APHP, Paris, France.

PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these clinical and genetic features. They had a similar phenotype, with severe hypotonia and respiratory distress at birth, delayed acquisition of motor milestones and need of scoliosis surgery. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.10.005DOI Listing
January 2019
12 Reads

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.

Neuromuscul Disord 2019 Jan 9;29(1):30-38. Epub 2018 Nov 9.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

Mutations in RYR1 are a common genetic cause of non-dystrophic neuromuscular disorders. To obtain baseline data concerning the prevalence of fatigue, the psychological disease burden and quality of life associated with these common conditions, we performed a questionnaire study. Seventy-two patients were included in this study, 33 with a congenital myopathy and 39 with malignant hyperthermia or exertional rhabdomyolysis. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.10.006DOI Listing
January 2019
17 Reads

Immunoglobulin (Ig)G-4 related myositis - A new entity?

Neuromuscul Disord 2019 Jan 24;29(1):70-74. Epub 2018 Nov 24.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Charitéplatz 1 / Virchowweg 15 (int.) Berlin, Germany. Electronic address:

Immunoglobulin (Ig)G4-related disease is an uncommon systemic autoimmune disorder characterized by infiltration of IgG4 plasma cells in different organs and elevated levels of IgG4 in peripheral blood. So far, only one case of myositis with abundant IgG4 plasma cells has been reported and classified as 'polymyositis'. We present an unusual case of chronic inflammatory myopathy in a context of rheumatoid arthritis. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.009DOI Listing
January 2019
12 Reads