290 results match your criteria Focal Muscular Atrophies


Heparin-Mimicking Polymer-Based In Vitro Platform Recapitulates In Vivo Muscle Atrophy Phenotypes.

Int J Mol Sci 2021 Mar 2;22(5). Epub 2021 Mar 2.

Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan-si 31151, Korea.

The cell-cell/cell-matrix interactions between myoblasts and their extracellular microenvironment have been shown to play a crucial role in the regulation of in vitro myogenic differentiation and in vivo skeletal muscle regeneration. In this study, by harnessing the heparin-mimicking polymer, poly(sodium-4-styrenesulfonate) (PSS), which has a negatively charged surface, we engineered an in vitro cell culture platform for the purpose of recapitulating in vivo muscle atrophy-like phenotypes. Our initial findings showed that heparin-mimicking moieties inhibited the fusion of mononucleated myoblasts into multinucleated myotubes, as indicated by the decreased gene and protein expression levels of myogenic factors, myotube fusion-related markers, and focal adhesion kinase (FAK). Read More

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CASK related disorder: Epilepsy and developmental outcome.

Eur J Paediatr Neurol 2021 Mar 19;31:61-69. Epub 2021 Feb 19.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genova, Italy; Unit of Child Neuropsychiatry, ASST Fatebenefratelli Sacco, Milano, Italy.

Objective: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. Few studies describe the electroclinical features of epilepsy in patients with CASK pathogenic variants and their relationship with developmental delay.

Methods: this national multicentre cohort included genetically confirmed patients with different CASK pathogenic variants. Read More

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Combinatorial Normalization of Liver-Derived Cytokine Pathways Alleviates Hepatic Tumor-Associated Cachexia in Zebrafish.

Cancer Res 2021 02 21;81(4):873-884. Epub 2020 Dec 21.

Department of Pancreatic Surgery, Pancreatic Cancer Institute, Cancer Institute, Fudan University Shanghai Cancer Center, Shanghai, China.

The role and significance of liver-derived cytokines in cancer-associated cachexia syndrome remain elusive. Here we report that combinatorial counterbalances of the leptin and Igf1 signaling pathways in hepatocellular carcinoma (HCC) models significantly relieves cachexia. Double transgenic zebrafish models of HCC that stably displayed focal lesions, anorexia, and wasting of adipose and muscle tissues were first generated. Read More

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February 2021

Altered supraspinal motor networks in survivors of poliomyelitis: A cortico-muscular coherence study.

Clin Neurophysiol 2021 Jan 4;132(1):106-113. Epub 2020 Nov 4.

Academic Unit of Neurology, School of Medicine, Trinity College Dublin, The University of Dublin, Ireland. Electronic address:

Objective: Poliomyelitis results in changes to the anterior horn cell. The full extent of cortical network changes in the motor physiology of polio survivors has not been established. Our aim was to investigate how focal degeneration of the lower motor neurons (LMN) in infancy/childhood affects motor network connectivity in adult survivors of polio. Read More

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January 2021

The neuromuscular junction is a focal point of mTORC1 signaling in sarcopenia.

Nat Commun 2020 09 9;11(1):4510. Epub 2020 Sep 9.

Biozentrum, University of Basel, Basel, Switzerland.

With human median lifespan extending into the 80s in many developed countries, the societal burden of age-related muscle loss (sarcopenia) is increasing. mTORC1 promotes skeletal muscle hypertrophy, but also drives organismal aging. Here, we address the question of whether mTORC1 activation or suppression is beneficial for skeletal muscle aging. Read More

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September 2020

AAV9-DOK7 gene therapy reduces disease severity in Smn SMA model mice.

Biochem Biophys Res Commun 2020 09 30;530(1):107-114. Epub 2020 Jul 30.

Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA; Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA. Electronic address:

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival motor neuron (SMN1) gene. An important hallmark of disease progression is the pathology of neuromuscular junctions (NMJs). Affected NMJs in the SMA context exhibit delayed maturation, impaired synaptic transmission, and loss of contact between motor neurons and skeletal muscle. Read More

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September 2020

Neuromuscular disorders in pregnancy.

Authors:
Louis H Weimer

Handb Clin Neurol 2020 ;172:201-218

Department of Neurology, Columbia University Irving Medical Center, New York, NY, United States. Electronic address:

Many neuromuscular disorders preexist or occur during pregnancy. In some cases, pregnancy unmasks a latent hereditary disorder. Most available information is based on case reports or series or retrospective clinical experience or patient surveys. Read More

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January 2020

Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere.

Cell Tissue Res 2020 Sep 16;381(3):461-478. Epub 2020 Jul 16.

Instituto de Investigación Sanitaria Valdecilla (IDIVAL) and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.

Spinal muscular atrophy (SMA) is caused by a deletion or mutation of the survival motor neuron 1 (SMN1) gene. Reduced SMN levels lead to motor neuron degeneration and muscular atrophy. SMN protein localizes to the cytoplasm and Cajal bodies. Read More

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September 2020

[Non-inflammatory muscle pain].

Dtsch Med Wochenschr 2020 07 2;145(13):887-894. Epub 2020 Jul 2.

Muscle pain as a common symptom in daily practice frequently occurs as a non-specific accompanying symptom in multiple internal and neurological diseases. Primarily inflammatory or autoimmune muscular diseases are causing muscle pain. However, a number of non-inflammatory causes of pain can also be considered for differential diagnosis. Read More

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Diffusion Tensor Imaging Characteristics in Hirayama Disease: Case Report and Review of the Literature.

World Neurosurg 2020 08 11;140:180-187. Epub 2020 May 11.

Department of Spine Surgery, Ganga Hospital, Coimbatore, India.

Background: Hirayama disease (HD) is a rare focal amyotrophy, commonly reported in adolescent Asian males and characterized by unilateral or asymmetric distal upper extremity weakness. This disease exhibits an indolent course of progression over the initial 3-4 years, followed by a stage of stabilization. The diagnosis is confirmed by demonstration of enhanced posterior epidural space and dynamic spinal cord compression on cervical flexion magnetic resonance imaging. Read More

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Relationship between Urinary Liver-Type Fatty Acid-Binding Protein (L-FABP) and Sarcopenia in Spontaneously Diabetic Torii Fatty Rats.

J Diabetes Res 2020 13;2020:7614035. Epub 2020 Jan 13.

Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University School of Medicine, Kanagawa, Japan.

Background: Type 2 diabetes (T2D) is a known risk factor for diabetic kidney disease (DKD) and sarcopenia in older patients. Because there may be an interaction between DKD and sarcopenia, the aim of the present study is to investigate the relationship between urinary levels of liver-type fatty acid-binding protein (L-FABP) and sarcopenia using a novel rat model of T2D.

Methods: Male spontaneously diabetic Torii (SDT) fatty rats ( = 5) at 16 weeks of age were used as an animal model of T2D. Read More

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Neuromuscular Diseases of the Newborn.

Authors:
Alex J Fay

Semin Pediatr Neurol 2019 12 5;32:100771. Epub 2019 Sep 5.

Department of Neurology, University of California, San Francisco, San Francisco, CA. Electronic address:

The peripheral nervous system (PNS) is composed of motor neurons, nerve roots, plexuses, peripheral nerves (motor, sensory and autonomic), neuromuscular junction, and skeletal muscles. Disorders of the PNS in neonates most frequently cause weakness, hypotonia, and contractures, which may be generalized or focal. Since these findings may also occur with brain and spinal cord lesions, key features of the history and neurologic exam, together with diagnostic testing, are helpful in reaching a diagnosis. Read More

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December 2019

Distal Cervical Spondylotic Amyotrophy: Case Reports Demonstrating Clinical/Imaging Segmental Discrepancy.

J Clin Neuromuscul Dis 2019 Dec;21(2):107-111

Division of Neurology, Department of Medicine, The Ottawa Hospital and University of Ottawa, Ottawa, ON, Canada.

Monomelic pure motor amyotrophy may seem to be an ominous syndrome as it leads to consideration of motor neuron disease. We present a series of 3 very similar cases where unilateral pure distal lower motor neuron paresis and atrophy was limited to the C8-T1 myotomes, without long-tract signs. Electrodiagnostic studies were in keeping with a restricted anterior horn cell disorder. Read More

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December 2019

Quantification of muscle mass in the legs of patients with peripheral arterial occlusive disease: associations between volumetric and cross-sectional single-slice measurements for identification of atrophy and focal sarcopenia.

J Cardiovasc Surg (Torino) 2019 Dec 9;60(6):672-678. Epub 2019 Oct 9.

Department of Radiology, Medical Imaging Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands -

Background: Sarcopenia, commonly determined by measuring skeletal muscle mass index (SMI) at the third lumbar level, has been identified as a predictor of clinical outcome in a variety of diseases. For patients with peripheral arterial occlusive disease (PAOD), we hypothesized that lower extremity SMI (LESMI) might be a more precise predictor of outcome and the extent of chronic ischemia than the systemic muscle mass at the L3 level. We investigated the association between complete muscle volume and muscle area derived with single-slice 2-dimensional measurements in the legs to identify at which level cross-sectional single-slice measurements are most representative of the muscle volume and investigated whether LESMI is associated with systemic sarcopenia and PAOD severity. Read More

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December 2019

Follistatin-based ligand trap ACE-083 induces localized hypertrophy of skeletal muscle with functional improvement in models of neuromuscular disease.

Sci Rep 2019 08 6;9(1):11392. Epub 2019 Aug 6.

Acceleron Pharma, Cambridge, MA, USA.

Skeletal muscle is under inhibitory homeostatic regulation by multiple ligands of the transforming growth factor-β (TGFβ) superfamily. Follistatin is a secreted protein that promotes muscle growth and function by sequestering these ligands extracellularly. In the present study, we evaluated the potential of ACE-083 - a locally acting, follistatin-based fusion protein - as a novel therapeutic agent for focal or asymmetric myopathies. Read More

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A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.

Mol Genet Genomic Med 2019 08 18;7(8):e825. Epub 2019 Jun 18.

Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, China.

Background: Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late onset and a slowly progressive course, the severe, recessively inherited form of CRYAB (alpha-B crystallin) gene-related infantile MFM has been suggested. Here, we report an infant in a Chinese family with fatal neonatal-onset hypertonic MFM with a novel CRYAB homozygous variant (c.3G > A (p. Read More

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Characteristic clinical and ultrastructural findings in nesprinopathies.

Eur J Paediatr Neurol 2019 Mar 29;23(2):254-261. Epub 2018 Dec 29.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.

Aims: To define the neurological and neuropathological alterations caused by SYNE1 mutations.

Methods: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. Read More

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Neuromuscular Ultrasound: Clinical Applications and Diagnostic Values.

Can J Neurol Sci 2018 11;45(6):605-619

2Department of Neurology and Clinical Neurophysiology,Donders Institute for Brain,Cognition and Behaviour,Radboud University Medical Center,Nijmegen,The Netherlands.

Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. Read More

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November 2018

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

Neuromuscul Disord 2018 12 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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December 2018

Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis.

Neuromuscul Disord 2018 12 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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December 2018

Characterization of Australian Labradoodle dystrophinopathy.

Neuromuscul Disord 2018 11 29;28(11):927-937. Epub 2018 Aug 29.

Department of Pathobiology, Auburn University College of Veterinary Medicine, Auburn, AL 36849, USA; Scott-Ritchey Research Center, Auburn University College of Veterinary Medicine, Auburn, AL 36849, USA.

In humans, dystrophin mutations cause the X-linked recessive disorder known as Duchenne muscular dystrophy (DMD). These mutations result in skeletal and cardiac muscle damage with mortality increasingly associated with cardiomyopathy. We have identified a novel dystrophin mutation in exon 21 in a line of Australian Labradoodles; affected dogs develop progressive clinical signs including poor weight gain and weight loss, gait abnormalities, exercise intolerance, skeletal muscle atrophy, macroglossa, ptyalism, dysphagia, kyphosis, and a plantigrade stance. Read More

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November 2018

Hirayama disease: analysis of cases in Russia.

Neurol Sci 2019 Jan 3;40(1):105-112. Epub 2018 Oct 3.

Research Center of Neurology, Moscow, Russia.

The fourteen cases of Hirayama disease (HD) are presented in this article. HD is seldom disease characterized by juvenile muscular atrophy of upper extremities and benign course. All cases were diagnosed in the Research Center of Neurology (Moscow, Russia) during the year 2015-2017. Read More

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January 2019

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.

Mol Ther 2018 09 27;26(9):2231-2242. Epub 2018 Aug 27.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA. Electronic address:

Mutations of the DYSF gene leading to reduced dysferlin protein level causes limb girdle muscular dystrophy type 2B (LGMD2B). Dysferlin facilitates sarcolemmal membrane repair in healthy myofibers, thus its deficit compromises myofiber repair and leads to chronic muscle inflammation. An experimental therapeutic approach for LGMD2B is to protect damage or improve repair of myofiber sarcolemma. Read More

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September 2018

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy.

Acta Myol 2018 Jun 1;37(2):117-120. Epub 2018 Jun 1.

Neuromuscular Disease Unit, Coimbra University and Hospital Centre, Coimbra, Portugal.

A group of heterogeneous muscle diseases are caused by dystrophin gene () mutations. We hereby present a male patient with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal right upper limb. At the age of 58, neurological examination revealed severe atrophy of right thenar muscles, flexion contractures on the right elbow, wrist and fingers, bilateral calf hypertrophy, myotatic areflexia in the upper limbs and hyporeflexia in the lower limbs. Read More

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Quantification of motor neuron loss and muscular atrophy in ricin-induced focal nerve injury.

J Neurosci Methods 2018 10 26;308:142-150. Epub 2018 Jul 26.

Russell H. Morgan Dept. of Radiology and Radiological Science, Division of MR Research, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA; Cellular Imaging Section and Vascular Biology Program, Institute for Cell Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA; Dept. of Chemical & Biomolecular Engineering, The Johns Hopkins University Whiting School of Engineering, Baltimore, MD, 21205, USA; Dept. of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA; Dept of Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. Electronic address:

Background: Intrasciatic nerve injection of the Ricinus communis agglutinin (RCA or ricin) causes degeneration of motor neurons (MNs) with functional deficits, such as those that occur in amyotrophic lateral sclerosis (ALS). The objective of this study was to develop a new comprehensive platform for quantitative evaluation of MN loss, muscular atrophy and behavioral deficits using different ricin injection regimens.

New Method: Fluorogold (FG)-guided stereological quantification of MNs, in vivo magnetic resonance imaging (MRI) of muscular atrophy, and CatWalk behavioral testing were used to evaluate the outcome of rats treated with different ricin regimens (RCA60 0. Read More

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October 2018

Muscle Conditions Affecting Sport Horses.

Vet Clin North Am Equine Pract 2018 Aug 28;34(2):253-276. Epub 2018 May 28.

Department of Large Animal Clinical Sciences, Michigan State University, McPhail Equine Performance Center, 736 Wilson Road, East Lansing, MI 48824, USA. Electronic address:

Optimal function of skeletal muscle is essential for successful athletic performance. Even minor derangements in locomotor muscle function will impact power output, coordination, stamina, and desire to work during exercise. In this review, the presenting clinical signs, differential diagnoses, approach to diagnostic testing and treatment of muscle atrophy and weakness, focal muscle strain, and exertional myopathies are discussed. Read More

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Alterations in the muscle force transfer apparatus in aged rats during unloading and reloading: impact of microRNA-31.

J Physiol 2018 07;596(14):2883-2900

Department of Neurobiology, Physiology and Behavior, University of California Davis, Davis, CA, USA.

Key Points: Force transfer is integral for maintaining skeletal muscle structure and function. One important component is dystrophin. There is limited understanding of how force transfer is impacted by age and loading. Read More

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Focal myositis with neurogenic atrophy: A case report.

Clin Neuropathol 2018 Jul/Aug;37(4):186-189

Focal myositis is a very rare form of inflammatory myopathy, with unknown etiology. We describe a 44-year-old previously healthy man who noticed a painless swelling on his left forearm, following trauma over the left cubital fossa. The swelling grew progressively over 2 years. Read More

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November 2018

Painless motor radiculopathy of the cervical spine: clinical and radiological characteristics and long-term outcomes after operative decompression.

J Neurosurg Spine 2018 06 23;28(6):621-629. Epub 2018 Mar 23.

OBJECTIVE Various neurological diseases are known to cause progressive painless paresis of the upper limbs. In this study the authors describe the previously unspecified syndrome of compression-induced painless cervical radiculopathy with predominant motor deficit and muscular atrophy, and highlight the clinical and radiological characteristics and outcomes after surgery for this rare syndrome, along with its neurological differential diagnoses. METHODS Medical records of 788 patients undergoing surgical decompression due to degenerative cervical spine diseases between 2005 and 2014 were assessed. Read More

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The Importance of Flexion MRI in Hirayama Disease with Special Reference to Laminodural Space Measurements.

AJNR Am J Neuroradiol 2018 05 15;39(5):974-980. Epub 2018 Mar 15.

Neurology (B.S.), Assam Medical College and Hospital, Dibrugarh, Assam, India.

Background And Purpose: Hirayama disease is a benign focal amyotrophy of the distal upper limbs involving C7, C8, and T1 segmental myotomes with sparing of the brachioradialis and proximal muscles of the upper limb innervated by C5-6 myotomes. The objective of the present study was to study the utility of MR imaging in young patients presenting with weakness and wasting of the distal upper extremity and to evaluate the importance of the laminodural space during flexion cervical MR imaging.

Materials And Methods: This was a prospective cross-sectional study conducted from January 2014 to July 2017 in a tertiary care center from Northeast India. Read More

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