neuromuscular diseases

Summary

Summary: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.

Top Publications

  1. Nodera H, Kaji R. Nerve excitability testing and its clinical application to neuromuscular diseases. Clin Neurophysiol. 2006;117:1902-16 pubmed
    ..Here, we review the basics of ion channel functions and membrane properties that influence nerve excitability, the basic principles of nerve excitability testing and the reported findings in various disorders...
  2. Le Roy F, Charton K, Lorson C, Richard I. RNA-targeting approaches for neuromuscular diseases. Trends Mol Med. 2009;15:580-91 pubmed publisher
    ..These diverse strategies show tremendous therapeutic potential and several clinical trials have been initiated with Duchenne muscular dystrophy patients with promising results...
  3. Hough C, Lieu B, Caldwell E. Manual muscle strength testing of critically ill patients: feasibility and interobserver agreement. Crit Care. 2011;15:R43 pubmed publisher
    ..We studied the feasibility and interobserver agreement of this sum score in a mixed cohort of critically ill and injured patients...
  4. Zhang Y, Huang J, Wang Z, Wang N, Wu Z. Value of muscle enzyme measurement in evaluating different neuromuscular diseases. Clin Chim Acta. 2012;413:520-4 pubmed publisher
    ..However literatures that described and compared the muscle enzyme levels among these diseases are few. We described their changes in a group of Chinese patients...
  5. Stergiou N, Decker L. Human movement variability, nonlinear dynamics, and pathology: is there a connection?. Hum Mov Sci. 2011;30:869-88 pubmed publisher
    ..Both situations result in systems that are less adaptable to perturbations, such as those associated with unhealthy pathological states or absence of skillfulness...
  6. Sakiyama Y, Okamoto Y, Higuchi I, Inamori Y, Sangatsuda Y, Michizono K, et al. A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy. Acta Neuropathol. 2011;121:775-83 pubmed publisher
    ..602C>T) in the mitochondrial tRNA(Phe) gene. This familial case of late-onset predominant axial myopathy and encephalopathy may represent a new clinical phenotype of a mitochondrial disease...
  7. Abresch R, Carter G, Han J, McDonald C. Exercise in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23:653-73 pubmed publisher
    ..reviews the current knowledge regarding the benefits and contraindications of exercise on individuals with neuromuscular diseases (NMDs)...
  8. Vuillerot C, Payan C, Girardot F, Fermanian J, Iwaz J, Berard C, et al. Responsiveness of the motor function measure in neuromuscular diseases. Arch Phys Med Rehabil. 2012;93:2251-6.e1 pubmed publisher
    ..To study the responsiveness (sensitivity to change) of the Motor Function Measure (MFM) in detecting change in neuromuscular disease patients with the intent of using this measure in future clinical trials...
  9. Cowling B, Toussaint A, Muller J, Laporte J. Defective membrane remodeling in neuromuscular diseases: insights from animal models. PLoS Genet. 2012;8:e1002595 pubmed publisher
    ..This suggests (1) a common molecular pathway underlying these different neuromuscular diseases, and (2) tissue-specific regulation of these proteins...

More Information

Publications63

  1. Downey R, Bellman M, Sharma N, Wang Q, Gregory C, Dixon W. A novel modulation strategy to increase stimulation duration in neuromuscular electrical stimulation. Muscle Nerve. 2011;44:382-7 pubmed publisher
    ..The purpose of this study is to examine the effect of feedback-based frequency modulation on the closed-loop performance of the quadriceps during repeated dynamic contractions...
  2. de Lattre C, Payan C, Vuillerot C, Rippert P, de Castro D, Berard C, et al. Motor function measure: validation of a short form for young children with neuromuscular diseases. Arch Phys Med Rehabil. 2013;94:2218-26 pubmed publisher
    To validate a useful version of the Motor Function Measure (MFM) in children with neuromuscular diseases aged <7 years old.
  3. Kurillo G, Han J, Abresch R, Nicorici A, Yan P, Bajcsy R. Development and application of stereo camera-based upper extremity workspace evaluation in patients with neuromuscular diseases. PLoS ONE. 2012;7:e45341 pubmed publisher
    ..a pilot study was undertaken with healthy individuals (n = 20) and a select group of patients with various neuromuscular diseases and varying degrees of shoulder girdle weakness (n = 9)...
  4. Nakamura S, Nakano S, Nishii M, Kaneko S, Kusaka H. Localization of O-GlcNAc-modified proteins in neuromuscular diseases. Med Mol Morphol. 2012;45:86-90 pubmed publisher
    ..Here, we immunolocalized O-GlcNAc-modified proteins in muscle biopsy specimens from 40 patients with neuromuscular diseases and controls. In normal muscle fibers, O-GlcNAc was found along plasma membranes and in nuclei...
  5. Laing N. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33-48 pubmed publisher
    ..b>Neuromuscular diseases include some of the most devastating disorders that afflict mankind, for example motor neuron disease...
  6. Martins P, Ayub Guerrieri D, Martins Bach A, Onofre Oliveira P, Malheiros J, Tannús A, et al. Dmdmdx/Largemyd: a new mouse model of neuromuscular diseases useful for studying physiopathological mechanisms and testing therapies. Dis Model Mech. 2013;6:1167-74 pubmed publisher
    ..Study of its substantial muscle weakness will also be very informative in the evaluation of functional benefits of these therapies. ..
  7. Larkindale J, Yang W, Hogan P, Simon C, Zhang Y, Jain A, et al. Cost of illness for neuromuscular diseases in the United States. Muscle Nerve. 2014;49:431-8 pubmed publisher
    ..We conducted a comprehensive study of the costs associated with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD). and myotonic dystrophy (DM) in the U.S...
  8. Sakellariou A, Sanoudou D, Spyrou G. Investigating the minimum required number of genes for the classification of neuromuscular disease microarray data. IEEE Trans Inf Technol Biomed. 2011;15:349-55 pubmed publisher
    ..Five feature selection methods on datasets from ten different neuromuscular diseases were utilized...
  9. El Mhandi L, Bethoux F. Isokinetic testing in patients with neuromuscular diseases: a focused review. Am J Phys Med Rehabil. 2013;92:163-78 pubmed publisher
    This literature review aimed to study the use of isokinetic testing in patients with neuromuscular diseases (NMDs) and to identify directions for future research of isokinetic testing.
  10. Ibrahim H, Dimachkie M, Shaibani A. A review: the use of rituximab in neuromuscular diseases. J Clin Neuromuscul Dis. 2010;12:91-102 pubmed publisher
    ..In this article, we review and discuss the available literature on rituximab in treatment of various autoimmune neuromuscular diseases.
  11. Russell A, Hartman J, Hinken A, Muci A, Kawas R, Driscoll L, et al. Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases. Nat Med. 2012;18:452-5 pubmed publisher
    ..Troponin activation may provide a new therapeutic approach to improve physical activity in diseases where neuromuscular function is compromised...
  12. Rittoo D, Jones A, Lecky B, Neithercut D. Elevation of cardiac troponin T, but not cardiac troponin I, in patients with neuromuscular diseases: implications for the diagnosis of myocardial infarction. J Am Coll Cardiol. 2014;63:2411-20 pubmed publisher
    This study sought to determine the clinical and biological significance of elevated cardiac troponin T (cTnT) in patients with neuromuscular diseases.
  13. Stübgen J. Neuromuscular diseases associated with chronic hepatitis C virus infection. J Clin Neuromuscul Dis. 2011;13:14-25 pubmed publisher
    ..degrees of certainty, there is evidence of an association between chronic HCV infection and a variety of neuromuscular diseases. The pathogenesis of most extrahepatic diseases remains unclear but possibly includes HCV lymphotropism ..
  14. Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol. 2012;124:273-83 pubmed publisher
    ..An earlier genetic diagnosis should provide improved disease management and higher quality genetic counseling, and ease access to therapy or inclusion into therapeutic trials...
  15. Fernandez C, Figarella Branger D, Meyronet D, Cassote E, Tong S, Pellissier J. Electron microscopy in neuromuscular disorders. Ultrastruct Pathol. 2005;29:437-50 pubmed
    ..Moreover, electron microscopy gives insight on pathophysiological mechanisms and can guide molecular genetics analysis. ..
  16. Boyer F, Morrone I, Laffont I, Dizien O, Etienne J, Novella J. Health related quality of life in people with hereditary neuromuscular diseases: an investigation of test-retest agreement with comparison between two generic questionnaires, the Nottingham health profile and the short form-36 items. Neuromuscul Disord. 2006;16:99-106 pubmed
    ..Health related quality-of-life (HRQoL) measures provide information on how patients assess their health and the care provision they are offered...
  17. Chevrel G, Hohlfeld R, Sendtner M. The role of neurotrophins in muscle under physiological and pathological conditions. Muscle Nerve. 2006;33:462-76 pubmed
    ..The goal of this review is to provide a basis for a better understanding and future studies on the role of these factors under such pathological conditions and for treatment of human muscle diseases...
  18. Dobkin B. Fatigue versus activity-dependent fatigability in patients with central or peripheral motor impairments. Neurorehabil Neural Repair. 2008;22:105-10 pubmed publisher
  19. Miller N, Benefield E, Hasting L, Carry P, Pan Z, Erickson M. Evaluation of high-risk patients undergoing spinal surgery: a matched case series. J Pediatr Orthop. 2010;30:496-502 pubmed publisher
    ..In response to this problem, a therapeutic algorithm, the Care Pathway for Spinal Surgery (CAPSS) has been developed at our institution to address this complex medical issue...
  20. Paciello O, Papparella S. Histochemical and immunohistological approach to comparative neuromuscular diseases. Folia Histochem Cytobiol. 2009;47:143-52 pubmed publisher
    The broad category of neuromuscular diseases covers conditions that involve the weakness or wasting of the body muscles. These problems may occur in the spinal cord, the peripheral nerves or the muscle fibers...
  21. Berard C, Payan C, Hodgkinson I, Fermanian J. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 2005;15:463-70 pubmed
    A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6-62 years...
  22. Master D, Son Hing J, Poe Kochert C, Armstrong D, Thompson G. Risk factors for major complications after surgery for neuromuscular scoliosis. Spine (Phila Pa 1976). 2011;36:564-71 pubmed publisher
    ..Retrospective, case series...
  23. Wokke J. Fatigue is part of the burden of neuromuscular diseases. J Neurol. 2007;254:948-9 pubmed
  24. Vincent K, Carr A, Walburn J, Scott D, Rose M. Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL). Neurology. 2007;68:1051-7 pubmed
    ..Because there is no muscle disease specific measure of quality of life (QoL), we wanted to develop and validate an individualized muscle disease specific measure of QoL for adults suitable for both clinical and research use...
  25. Berard C, Payan C, Fermanian J, Girardot F. [A motor function measurement scale for neuromuscular diseases - description and validation study]. Rev Neurol (Paris). 2006;162:485-93 pubmed
    A new scale for motor function measurement has been developed for neuromuscular diseases. After the study of a preliminary and a first version, the validation study included 303 patients, aged 6 to 62 years...
  26. Vainzof M, Ayub Guerrieri D, Onofre P, Martins P, Lopes V, Zilberztajn D, et al. Animal models for genetic neuromuscular diseases. J Mol Neurosci. 2008;34:241-8 pubmed publisher
    ..Several animal models, manifesting phenotypes observed in neuromuscular diseases, have been identified in nature or generated in laboratory...
  27. Musaro A, Giacinti C, Pelosi L, Dobrowolny G, Barberi L, Nardis C, et al. Stem cell-mediated muscle regeneration and repair in aging and neuromuscular diseases. Eur J Histochem. 2007;51 Suppl 1:35-43 pubmed
  28. Bach J, Gonçalves M, Páez S, Winck J, Leitão S, Abreu P. Expiratory flow maneuvers in patients with neuromuscular diseases. Am J Phys Med Rehabil. 2006;85:105-11 pubmed
  29. Kilmer D, Wright N, Aitkens S. Impact of a home-based activity and dietary intervention in people with slowly progressive neuromuscular diseases. Arch Phys Med Rehabil. 2005;86:2150-6 pubmed
    ..To determine whether a home-based activity and dietary intervention can increase activity level, reduce caloric intake, and impact positively components of metabolic syndrome in a disabled population...
  30. Resch B, Manzoni P, Lanari M. Severe respiratory syncytial virus (RSV) infection in infants with neuromuscular diseases and immune deficiency syndromes. Paediatr Respir Rev. 2009;10:148-53 pubmed publisher
    ..There is growing evidence of severe RSV disease in infants with neuromuscular diseases and immune deficiency syndromes...
  31. Koçer S. Classification of EMG signals using neuro-fuzzy system and diagnosis of neuromuscular diseases. J Med Syst. 2010;34:321-9 pubmed
    ..Coefficients that were obtained from the EMG signals using Autoregressive (AR) analysis was applied to neuro-fuzzy system. The classification performance of the feature sets was investigated for three classes...
  32. Cup E, Pieterse A, Ten Broek Pastoor J, Munneke M, van Engelen B, Hendricks H, et al. Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review. Arch Phys Med Rehabil. 2007;88:1452-64 pubmed
    To summarize and critically appraise the available evidence on exercise therapy and other types of physical therapies for patients with neuromuscular diseases (NMD).
  33. Schillings M, Kalkman J, Janssen H, van Engelen B, Bleijenberg G, Zwarts M. Experienced and physiological fatigue in neuromuscular disorders. Clin Neurophysiol. 2007;118:292-300 pubmed
    ..It might be caused both by changes at the peripheral and at the central level. This study measured the level of experienced fatigue and physiological correlates of fatigue in three genetically defined neuromuscular disorders...
  34. Stevens R, Dowdy D, Michaels R, Mendez Tellez P, Pronovost P, Needham D. Neuromuscular dysfunction acquired in critical illness: a systematic review. Intensive Care Med. 2007;33:1876-91 pubmed
    ..To determine the prevalence, risk factors, and outcomes of critical illness neuromuscular abnormalities (CINMA)...
  35. Probst Cousin S, Neundörfer B, Heuss D. Microvasculopathic neuromuscular diseases: lessons from hypoxia-inducible factors. Neuromuscul Disord. 2010;20:192-7 pubmed publisher
    ..These observations suggest that the upregulation of hypoxia-related proteins may represent an adaptation mechanism of neuromuscular tissues to immune mediated deprivation of the blood supply...
  36. Deschauer M, Swalwell H, Strauss M, Zierz S, Taylor R. Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease. Arch Neurol. 2006;63:902-5 pubmed
  37. Feasson L, Camdessanche J, El Mandhi L, Calmels P, Millet G. Fatigue and neuromuscular diseases. Ann Readapt Med Phys. 2006;49:289-300, 375-84 pubmed
    To identify the role of fatigue, its evaluation and its causes in the pathophysiology context of acquired or hereditary neuromuscular diseases of the spinal anterior horn cell, peripheral nerve, neuromuscular junction and muscle.
  38. Hough C, Needham D. The role of future longitudinal studies in ICU survivors: understanding determinants and pathophysiology of weakness and neuromuscular dysfunction. Curr Opin Crit Care. 2007;13:489-96 pubmed
    ..The goals of this review are to discuss the pathophysiology and determinants of muscle weakness and neuromuscular dysfunction after critical illness, and to offer thoughts regarding the role of future longitudinal studies in this area...
  39. Minis M, Heerkens Y, Engels J, Oostendorp R, van Engelen B. Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: a systematic review. Disabil Rehabil. 2009;31:2150-63 pubmed publisher
    ..of the literature to identify health and contextual factors associated with employment in patients with neuromuscular diseases (NMD) and to perform a best evidence synthesis, taking into account the design of studies, methodological ..
  40. Servera E, Sancho J, Zafra M, Catalá A, Vergara P, Marin J. Alternatives to endotracheal intubation for patients with neuromuscular diseases. Am J Phys Med Rehabil. 2005;84:851-7 pubmed
    ..To evaluate the usefulness of continuous noninvasive mechanical ventilation and mechanical coughing aids to avoid endotracheal intubation and tracheostomy during episodes of acute respiratory failure in patients with neuromuscular disease...
  41. Dulac Y, Wahbi K, Latcu D, Maury P, Cances C, Cintas P, et al. [Arrhythmia follow-up of children and adolescents with neuromuscular diseases]. Arch Mal Coeur Vaiss. 2007;100:490-5 pubmed
    Much progress has been made over the last few years in understanding and classifying neuromuscular diseases. The heart is frequently affected but often in a dissociated manner with respect to the neuromuscular signs although it has a ..
  42. Higuchi I, Hashiguchi A, Matsuura E, Higashi K, Shiraishi T, Hirata N, et al. Different pattern of HSP47 expression in skeletal muscle of patients with neuromuscular diseases. Neuromuscul Disord. 2007;17:221-6 pubmed
    ..Our findings suggest that HSP47 may be involved in the repair or regeneration of muscle fibers in addition to the fibrotic change in the connective tissue...
  43. Serratrice G. Axial myopathies: an elderly disorder. Acta Myol. 2007;26:11-3 pubmed
  44. Bach J, Mahajan K, Lipa B, Saporito L, Goncalves M, Komaroff E. Lung insufflation capacity in neuromuscular disease. Am J Phys Med Rehabil. 2008;87:720-5 pubmed publisher
  45. Stevens R, Marshall S, Cornblath D, Hoke A, Needham D, De Jonghe B, et al. A framework for diagnosing and classifying intensive care unit-acquired weakness. Crit Care Med. 2009;37:S299-308 pubmed publisher
    ..We propose a simple framework for diagnosing and classifying neuromuscular disorders acquired in critical illness...
  46. Paschoal I, Villalba W, Pereira M. Chronic respiratory failure in patients with neuromuscular diseases: diagnosis and treatment. J Bras Pneumol. 2007;33:81-92 pubmed
    b>Neuromuscular diseases affect alveolar air exchange and therefore cause chronic respiratory failure...
  47. Dhand U, Dhand R. Sleep disorders in neuromuscular diseases. Curr Opin Pulm Med. 2006;12:402-8 pubmed
    ..This paper reviews the mechanisms, diagnostic evaluation, and management of sleep disorders in various neuromuscular diseases.
  48. Knuijt S, Cup E, Pieterse A, de Swart B, Van Der Wilt G, van Engelen B, et al. Speech pathology interventions in patients with neuromuscular diseases: a systematic review. Folia Phoniatr Logop. 2011;63:15-20 pubmed publisher
    A systematic review was conducted to summarize and evaluate the literature on the effectiveness of speech pathology interventions in adults with neuromuscular diseases.
  49. Artuch R, Salviati L, Jackson S, Hirano M, Navas P. Coenzyme Q10 deficiencies in neuromuscular diseases. Adv Exp Med Biol. 2009;652:117-28 pubmed publisher
    ..This review updates the clinical and molecular aspects of both types of CoQ deficiencies and proposes new approaches to understanding their molecular bases...
  50. Racca F, Del Sorbo L, Mongini T, Vianello A, Ranieri V. Respiratory management of acute respiratory failure in neuromuscular diseases. Minerva Anestesiol. 2010;76:51-62 pubmed
    b>Neuromuscular diseases (NMD) can affect all major respiratory muscles, leading to the development of respiratory failure, which is the most common cause of morbidity and mortality in patients affected by those conditions...
  51. Arens R, Muzumdar H. Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases. Paediatr Respir Rev. 2010;11:24-30 pubmed publisher
    Sleep disordered breathing (SDB) is now well recognized in children with neuromuscular diseases (NMD) and may lead to significant morbidity and increased mortality...
  52. Ambrosino N, Carpenè N, Gherardi M. Chronic respiratory care for neuromuscular diseases in adults. Eur Respir J. 2009;34:444-51 pubmed publisher
    b>Neuromuscular diseases (NMD) may affect respiratory muscles, leading to respiratory failure. Studies show that long-term noninvasive mechanical ventilation (NIV) improves symptoms, gas exchange, quality of life and survival...
  53. Laub M, Berg S, Midgren B. Symptoms, clinical and physiological findings motivating home mechanical ventilation in patients with neuromuscular diseases. J Rehabil Med. 2006;38:250-4 pubmed
    To clarify the relationship between symptoms, clinical signs and physiological abnormalities that were motivating the initiation of home mechanical ventilation in patients suffering from neuromuscular diseases.
  54. Hughes B, Kusner L, Kaminski H. Molecular architecture of the neuromuscular junction. Muscle Nerve. 2006;33:445-61 pubmed
    ..Finally, genetic and autoimmune disorders and their effects on NMJ architecture and neuromuscular transmission are examined...