3,257 results match your criteria Neuromuscular Disorders [Journal]


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 2018 Dec 17. 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
December 2018

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 2018 Dec 15. 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
December 2018

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

Neuromuscul Disord 2018 Dec 9. 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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http://dx.doi.org/10.1016/j.nmd.2018.12.002DOI Listing
December 2018

Neuromuscular disorders in Anatolia - A personal review.

Authors:
Haluk Topaloğlu

Neuromuscul Disord 2018 Dec 28. 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
December 2018

Colonic distension treatment in Duchenne muscular dystrophy.

Neuromuscul Disord 2018 Nov 3. 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
November 2018
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Colonic distension treatment in Duchenne muscular dystrophy - response.

Neuromuscul Disord 2018 Dec 8. 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
December 2018
2.638 Impact Factor

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

Authors:
Zohar Argov

Neuromuscul Disord 2019 Jan 11. 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
January 2019
5 Reads

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

Neuromuscul Disord 2019 Jan 6. 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
January 2019

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

Neuromuscul Disord 2018 Dec 10. 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
December 2018
4 Reads

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

Neuromuscul Disord 2018 Nov 14. 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
November 2018

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 2018 Dec 22. 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
December 2018

Muscle hypertrophy in amyloid myopathy.

Neuromuscul Disord 2018 Dec 21. 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
December 2018
1 Read
2.638 Impact Factor

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

Neuromuscul Disord 2018 Dec 28. 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
December 2018

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

Neuromuscul Disord 2018 Dec 20. 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
December 2018
3 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 2018 Nov 22. 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
November 2018
4 Reads

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

Neuromuscul Disord 2018 Nov 29. 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
November 2018
4 Reads

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

Neuromuscul Disord 2018 Dec 21. 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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183108
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http://dx.doi.org/10.1016/j.nmd.2018.12.008DOI Listing
December 2018
6 Reads

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

Neuromuscul Disord 2018 Dec 20. 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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183058
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http://dx.doi.org/10.1016/j.nmd.2018.12.009DOI Listing
December 2018
8 Reads

The clinical management of neuromuscular disorders in intensive care.

Neuromuscul Disord 2018 Dec 18. 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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http://dx.doi.org/10.1016/j.nmd.2018.12.005DOI Listing
December 2018
1 Read

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

Neuromuscul Disord 2018 Nov 25. 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. Electronic address:

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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183053
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http://dx.doi.org/10.1016/j.nmd.2018.11.008DOI Listing
November 2018
7 Reads

Clinical spectrum of neuromuscular complications after immune checkpoint inhibition.

Neuromuscul Disord 2018 Dec 3. 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
December 2018
1 Read

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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183021
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http://dx.doi.org/10.1016/j.nmd.2018.08.013DOI Listing
January 2019
4 Reads

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

Neuromuscul Disord 2018 Oct 31. 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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183009
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http://dx.doi.org/10.1016/j.nmd.2018.10.002DOI Listing
October 2018
10 Reads

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

Neuromuscul Disord 2018 Dec 4. 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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http://dx.doi.org/10.1016/j.nmd.2018.11.013DOI Listing
December 2018
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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https://linkinghub.elsevier.com/retrieve/pii/S09608966173148
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http://dx.doi.org/10.1016/j.nmd.2018.11.004DOI Listing
January 2019
3 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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183115
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http://dx.doi.org/10.1016/j.nmd.2018.10.005DOI Listing
January 2019
9 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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183113
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http://dx.doi.org/10.1016/j.nmd.2018.10.006DOI Listing
January 2019
8 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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183104
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http://dx.doi.org/10.1016/j.nmd.2018.11.009DOI Listing
January 2019
7 Reads

Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review.

Neuromuscul Disord 2019 Jan 31;29(1):14-20. Epub 2018 Oct 31.

Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK.

The conduct and interpretation of electromyography in children is considered difficult and therefore often avoided. We assessed the diagnostic accuracy of the paediatric electromyography protocol used in our tertiary reference centre and compared it to muscle biopsy results and clinical diagnosis. Electromyography was performed in unsedated children with suspected neuromuscular diseases between January 2010 and September 2017 and was analysed quantitatively. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.10.003DOI Listing
January 2019

Late onset distal myopathy: A new telethoninopathy.

Neuromuscul Disord 2019 Jan 13;29(1):80-83. Epub 2018 Nov 13.

Unidad de Neuromuscular, Hospital Universitario 12 de Octubre, Instituto i+12 y U-723 del CIBERER, Spain.

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http://dx.doi.org/10.1016/j.nmd.2018.11.001DOI Listing
January 2019

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Neuromuscul Disord 2019 Jan 22;29(1):67-69. Epub 2018 Nov 22.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Pisa 56128, Italy. Electronic address:

We present a 29-year-old man with visual failure since childhood, muscle weakness, subtle heart muscle hypertrophy, and seizures who was initially considered to be affected by a mitochondrial encephalomyopathy because of the multiple unspecific involvement of brain, muscle and retinal tissues. Only the muscle biopsy findings correctly guided the genetic investigations and the identification of an autophagic vacuolar myopathy due to a homozygous mutation in CLN3. We believe that information in autophagic muscle disorders should further alert clinicians to consider CLN3 in individuals with vacuolar myopathy, especially if they have visual and cardiac involvement. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.006DOI Listing
January 2019

The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy.

Neuromuscul Disord 2019 Jan 30;29(1):21-29. Epub 2018 Oct 30.

Roche Innovation Center, Hoffmann-La Roche Ltd., Grenzacherstrasse 124, CH-4070 Basel, Switzerland.

Spinal muscular atrophy (SMA) is a rare genetic and progressively debilitating neuromuscular disease. It is the leading genetic cause of death among infants. In SMA, low levels of survival of motor neuron (SMN) protein lead to motor neuron death and muscle atrophy as the SMN protein is critical to motor neuron survival. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.10.001DOI Listing
January 2019
1 Read

Fractures and bone health monitoring in boys with Duchenne muscular dystrophy managed within the Scottish Muscle Network.

Neuromuscul Disord 2019 Jan 25;29(1):59-66. Epub 2018 Sep 25.

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

There are limited reports of radiologically confirmed fractures and bone health monitoring in with Duchenne muscular dystrophy. We performed a retrospective study of 91 boys, with a median age of 11.0 years, who are currently managed in Scotland with the aim to assess the frequency of radiologically confirmed fractures and report on bone health monitoring in relation to International Care Consensus Guidance. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.005DOI Listing
January 2019
2 Reads

The 2019 version of the gene table of neuromuscular disorders (nuclear genome).

Neuromuscul Disord 2018 Dec 27;28(12):1031-1063. Epub 2018 Sep 27.

CHRU de Montpellier, Direction de la Recherche et de l'Innovation, Hôpital La Colombière, Montpellier, France.

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http://dx.doi.org/10.1016/j.nmd.2018.09.006DOI Listing
December 2018

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.

Neuromuscul Disord 2018 Dec 25;28(12):1022-1030. Epub 2018 Sep 25.

UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.09.004DOI Listing
December 2018

Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.

Neuromuscul Disord 2018 Dec 9;28(12):1003-1005. Epub 2018 Oct 9.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Avenida Professor Egas Moniz, 1649-035 Lisbon, Portugal; Faculty of Medicine, Institute of Physiology Unit, Instituto de Medicina Molecular, Universidade de Lisboa, Avenida Professor Egas Moniz, 1649-035 Lisbon, Portugal.

Limb-girdle muscular dystrophy 2A (LGMD2A) or calpainopathy is the most common type of LGMD worldwide, representing about 30-40% of all described cases. Nevertheless, its prevalence in sub-Saharan African countries is unknown. We report two young siblings from Guinea-Bissau with recessive calpainopathy due to novel null homozygous c. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.009DOI Listing
December 2018
2 Reads

Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients.

Neuromuscul Disord 2018 Dec 27;28(12):996-1002. Epub 2018 Sep 27.

Hôpital Rothschild, Service de Reeducation Neuro-orthopédique, 5 Rue Santerre 75012 Paris, France.

Facioscapulohumeral muscular dystrophy type 1 is the third most common inherited myopathy. Its severity is proportionate to the loss of microsatellite D4Z4 repetitions, which are below 10. Patients suffer from weakness in facial muscles, shoulder girdles and ankle dorsiflexors. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.007DOI Listing
December 2018
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Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.

Neuromuscul Disord 2018 Dec 5;28(12):1016-1021. Epub 2018 Oct 5.

University Hospital of North Midlands NHS Trust, United Kingdom.

Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.008DOI Listing
December 2018
14 Reads

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation.

Neuromuscul Disord 2018 Dec 29;28(12):1006-1011. Epub 2018 Aug 29.

Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.

We report a 9-year-old girl homozygous for a loss-of-function mutation in the PIEZO-2 gene. She showed generalized muscular hypotonia with severe scoliosis, joint deformities, deficient proprioceptive function and selective atrophy and signal alterations of both gastrocnemii on whole body MRI scan. Light microscopic and ultrastructural examination showed few atrophic fibres, abnormal mitochondria, focal myofibrillar disruption and endomysial capillary microangiopathy. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.08.009DOI Listing
December 2018
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Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis.

Neuromuscul Disord 2018 Dec 19;28(12):973-985. Epub 2018 Sep 19.

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address:

Regenerative processes that counteract perifascicular muscle atrophy and capillary loss in juvenile dermatomyositis (JDM) are not well characterized. We aimed to analyze the pattern of myo-regeneration in relation to vascular damage and repair in muscle specimens from JDM patients. Myogenic regulatory factors that are sequentially expressed during myogenesis were studied by immunohistochemistry. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.002DOI Listing
December 2018
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IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Neuromuscul Disord 2018 Dec 29;28(12):1012-1015. Epub 2018 Aug 29.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3AR, UK. Electronic address:

Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed respiratory involvement at age 9, eventually requiring 24-h non-invasive ventilation, and severe autonomic dysfunction restricted to the gastrointestinal tract. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302219PMC
December 2018
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Role of neuronal nitric oxide synthase (nNOS) in Duchenne and Becker muscular dystrophies - Still a possible treatment modality?

Neuromuscul Disord 2018 Nov 11;28(11):914-926. Epub 2018 Sep 11.

Department of Neurology, Neurovascular Research Unit, Herlev Gentofte Hospital, University of Copenhagen, Denmark; PDE Research Group, Lundbeck Foundation Center for Neurovascular Research (LUCENS), Denmark. Electronic address:

Neuronal nitric oxide synthase (nNOS) is involved in nitric oxide (NO) production and suggested to play a crucial role in blood flow regulation of skeletal muscle. During activation of the muscle, NO helps attenuate the sympathetic vasoconstriction to accommodate increased metabolic demands, a phenomenon known as functional sympatholysis. In inherited myopathies such as the dystrophinopathies Duchenne and Becker muscle dystrophies (DMD and BMD), nNOS is lost from the sarcolemma. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.001DOI Listing
November 2018
10 Reads

Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort.

Neuromuscul Disord 2018 Dec 6;28(12):986-995. Epub 2018 Sep 6.

Departamento de Microbiología, Inmunología, Biotecnología y Genética, Cátedra de Genética, Laboratorio de Distrofinopatías, Universidad de Buenos Aires, Laboratorio de Distrofinopatías Junín 956, C.A.B.A., C.P. 1113, Buenos Aires, Argentina; Instituto de Inmunología, Genética y Metabolismo (INIGEM), CONICET - Universidad de Buenos Aires, Buenos Aires, Argentina.

Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates for Ataluren treatment and perform carrier status testing. Furthermore, was our goal to characterize the DMD sequence variants and identify ancestral haplotypes. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.08.012DOI Listing
December 2018
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Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.

Neuromuscul Disord 2018 Nov 19;28(11):938-946. Epub 2018 Sep 19.

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

Overweight and obesity are common in patients with facioscapulohumeral dystrophy (FSHD) and myotonic dystrophy type 1 (DM1). Lifestyle change is often challenging for patients with neuromuscular diseases, especially to increase physical activity. When lifestyle changes have not been effective, bariatric surgery is a treatment option. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.003DOI Listing
November 2018
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Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids.

Neuromuscul Disord 2018 Nov 29;28(11):897-909. Epub 2018 Aug 29.

University of California Davis Health, Sacramento, CA, USA.

We describe changes in pulmonary function measures across time in Duchenne muscular dystrophy patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve patients in the Cooperative International Research Group Duchenne Natural History Study, a multicenter prospective cohort study. 397 participants underwent 2799 pulmonary function assessments over a period up to 10 years. Fifty-three GC naïve participants (< 1 month exposure) were compared to 322 subjects with > 1 year cumulative GC treatment. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.07.004DOI Listing
November 2018
20 Reads
1 Citation
2.640 Impact Factor

Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy.

Neuromuscul Disord 2018 Nov 10;28(11):965-968. Epub 2018 Aug 10.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, Universidade de Lisboa, Portugal.

Clinical data regarding the use of enzyme replacement therapy (ERT) during pregnancy in late-onset Pompe disease (LOPD) is still scarce. We present the clinical case of a 32-year-old female patient with LOPD, on enzyme replacement therapy (ERT) since the age of 29 years old, who had treatment interrupted after her second week of pregnancy with subsequent deterioration of her muscle condition. ERT was resumed by week 20 with clear clinical improvement. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183020
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http://dx.doi.org/10.1016/j.nmd.2018.08.002DOI Listing
November 2018
3 Reads