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Total 104 results found since Jan 2013.

G.P.39: An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy
We present here a prospective study of the pathophysiology of XLMTM to characterize the disease course by using standardized evaluations. A total of 60 patients with XLMTM, male or symptomatic female of any age, are planned to be enrolled in North America and Europe. Visit frequency and assessments are adjusted to age, ambulatory and respiratory status. Evaluations include standard liver ultrasound, clinical exam, ophthalmoplegia assessment, pulmonary function tests, strength and motor function assessment by using upper limb-specific devices and common scales, six-minute walk test, activity monitoring using the Actimyo dev...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Annoussamy, H. Landy, D. Ramsdell, M. Nelken, F. Muntoni, C. Bönnemann, D. Bharucha, J.J. Dowling, K. Amburgey, C. Lilien, G. Ollivier, J. Laporte, V. Biancalana, U. Schara, J.M. Cuisset, A. D’Amico, N. Deconinck, P.Y. Jeannet, A. Klein, J. Fluss, M Source Type: research

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of x‐linked myotubular myopathy
Discussion: This pilot demonstrates the feasibility of using ultrasound for quantitative assessment of the diaphragm in a canine model. Ultrasonography may potentially replace invasive measures of diaphragm function in canine models and in humans in the future, for non‐invasive respiratory monitoring and evaluation of neuromuscular disease. © 2014 Wiley Periodicals, Inc.
Source: Muscle and Nerve - May 23, 2014 Category: Internal Medicine Authors: Aarti Sarwal, Michael S. Cartwright, Francis O. Walker, Erin Mitchell, Anna Buj‐Bello, Alan H. Beggs, Martin K. Childers Tags: Short Report Source Type: research

MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement
X-linked myotubular myopathy (XLMTM) results from mutations in MTM1 and manifests in males with severe congenital hypotonia, weakness and respiratory insufficiency. Carrier females are less well-characterized, with reports indicating a spectrum of disease, ranging from mild facial weakness to severe congenital weakness. We deeply phenotyped a cohort of ten females with causative mutations in MTM1, evaluating the severity of disease expression based on muscle weakness, pulmonary function (spirometry and dynamic breathing MRI), muscle imaging (ultrasound and MRI) and skeletal morphology.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: A. Reghan Foley, B. Cocanougher, L. Flynn, P. Yun, M. Jain, M. Waite, R. Vasavada, S. de Chastonay, S. Donkervoort, C. Bonnemann Source Type: research

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum
Conclusions: This series confirms and expands the clinical and histologic variability associated with severe congenital RYR1-associated myopathy. Both dominant and recessive mutations of the RYR1 gene can result in a severe neonatal-onset phenotype, but more clinical and histologic heterogeneity has been seen in those with recessive RYR1 gene mutations. Central cores are not obligatory histologic features in recessive RYR1 mutations. Sparing of the rectus femoris muscle on imaging should prompt evaluation for RYR1-associated myopathy in the appropriate clinical context.
Source: Neurology - April 22, 2013 Category: Neurology Authors: Bharucha-Goebel, D. X., Santi, M., Medne, L., Zukosky, K., Dastgir, J., Shieh, P. B., Winder, T., Tennekoon, G., Finkel, R. S., Dowling, J. J., Monnier, N., Bonnemann, C. G. Tags: Ultrasound, Muscle disease, All Pediatric, All Genetics ARTICLE Source Type: research

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy
Conclusions Anti-HMGCR myopathy can resemble LGMD. Diagnosis of patients with a LGMD-like presentation of anti-HMGCR myopathy is critical because these patients may respond favorably to immunotherapy, especially those with shorter disease duration.
Source: Neurology Neuroimmunology and Neuroinflammation - December 12, 2018 Category: Neurology Authors: Mohassel, P., Landon-Cardinal, O., Foley, A. R., Donkervoort, S., Pak, K. S., Wahl, C., Shebert, R. T., Harper, A., Fequiere, P., Meriggioli, M., Toro, C., Drachman, D., Allenbach, Y., Benveniste, O., Behin, A., Eymard, B., Laforet, P., Stojkovic, T., Mam Tags: MRI, Ultrasound, Autoimmune diseases, Muscle disease Article Source Type: research

Multimodality imaging findings of visceral myopathy in a child presenting with palpable abdominal mass.
We report a rare case of visceral myopathy in a child presenting with intraabdominal mass. We aimed to describe ultrasound, computed tomography and magnetic resonance enterography findings of this rare disease that has not been demonstrated before. Differential diagnosis of mural thickening with distinguishable layers in addition to intestinal dilatation in the absence of mesenteric inflammation includes visceral myopathy. PMID: 31559733 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - September 29, 2019 Category: Pediatrics Authors: Bayramoğlu Z, Yılmaz R, Demir AA, Ataizi-Çelikel Ç, Kombak FE, İkinci A, Yekeler E Tags: Turk J Pediatr Source Type: research

Pompe Disease: Distal Myopathy In A Previously Unreported Heterozygous Variant (P3.297)
Conclusion: Our patients present the phenotypic heterogeneity of PD under the same genotypic variation in the same family, being ours the first distal myopathy case reported. We also detected a previously unreported heterozygous variant in exon 8 of the GAA gene (c.1198G>A p.V400I). PD is a rare, heterogeneous condition that may mimic many neuromuscular conditions.Disclosure: Dr. Farinhas has nothing to disclose. Dr. Nascimento has nothing to disclose. Dr. Davidovich has nothing to disclose. Dr. Dornas has nothing to disclose. Dr. Pupe has nothing to disclose. Dr. Coutinho has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Dib, J., Nascimento, O., Davidovich, E., Dornas, R., Pupe, C., Coutinho, B. Tags: Muscle Disease Source Type: research

Utility of diaphragm ultrasound in myopathy
This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - October 3, 2016 Category: Internal Medicine Authors: Cullen M. O'Gorman, Travis G. O'Brien, Andrea J. Boon Tags: Short Reports Source Type: research

Semitendinosus myopathy and treatment with adipose-derived stem cells in working German shepherd police dogs.
Abstract Semitendinosus myopathy has been treated with numerous surgical and non-surgical therapies resulting in recurrence of lameness within 2 to 9 months. Eleven cases of semitendinosus myopathy diagnosed in 8 working police dogs that were treated with adipose-derived mesenchymal stem cells were retrospectively evaluated. At short-term follow-up < 6 mo, ultrasound and gait evaluations revealed a mean reduction in the overall intramuscular lesion size of 54.82% (SD +/- 18.02; range: 30.5% to 82.7%) and reduction in the Visual Assessment Score (VAS) of 1 to 3 points. At long-term follow-up > 1 y, in 8 cases...
Source: The Canadian Veterinary Journal - February 28, 2017 Category: Veterinary Research Authors: Gibson MA, Brown SG, Brown NO Tags: Can Vet J Source Type: research

P3-4-8. Utility of diaphragm ultrasound and phrenic nerve conduction in myopathy
Respiratory dysfunction in myopathy such as muscular dystrophy is extremely important because it is directly related to life prognosis, and appropriate evaluation and management is necessary. For objective assessment of respiratory muscle strength in myopathy, we study the usefulness of diaphragm ultrasonography and phrenic nerve study. Nineteen myopathy patients who were confirmed by genetic testing or muscle biopsy during our hospital visit were included. In both cases, respiratory function test, phrenic nerve conduction test, diaphragm ultrasonic examination were performed.
Source: Clinical Neurophysiology - March 30, 2018 Category: Neuroscience Authors: Yoshikatsu Noda, Kenji Sekiguchi Source Type: research

The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal‐onset cap myopathy
What's already known about this topic?Rare heterogeneous group of neuromuscular disorders.Associated with severe, often fatal phenotypes – Prenatal parental counselling and ‘high risk screening’ importantPrenatal diagnosis primarily reliant upon ultrasound detection What does this study add?Introduces a novel, lethal fetal form of cap myopathy.Evaluates range of ultrasound features and how detection can be facilitatedRe‐confirms fetal‐onset CM represents important, complex diagnostic challenge.
Source: Prenatal Diagnosis - June 1, 2013 Category: Perinatology & Neonatology Authors: J. A. Tamblyn, R. K. Morris, P. Cox, B. Hargitai, M. D. Kilby Tags: Research Letter Source Type: research

Prenatal diagnosis of X ‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
We present the prenatal diagnosis of a rare X‐linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing‐based approach. Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X‐linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing‐based approach.
Source: Clinical Case Reports - January 31, 2017 Category: Journals (General) Authors: Christopher Konialis, Efstratios Assimakopoulos, Birgitta Hagnefelt, Sophia Karapanou, Alexandros Sotiriadis, Constantinos Pangalos Tags: Case Report Source Type: research

Necrotizing myopathy in two patients after the use of Moringa (P2.137)
Conclusions:Analogous to statins, Moringa may be associated with necrotizing myopathy.Disclosure: Dr. Treidler has nothing to disclose. Dr. Arya has nothing to disclose. Dr. Seidman has nothing to disclose. Dr. Somasundaram has nothing to disclose. Dr. Anziska has received research support from Pfizer. Dr. Marchidann has nothing to disclose. Dr. Maccabee has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Treidler, S., Arya, K., Seidman, R., Somasundaram, M., Anziska, Y., Marchidann, A., Maccabee, P. Tags: Myopathies & amp;amp; Myasthenia Gravis II Source Type: research

Immune Myopathy With Perimysial Pathology Associated With Interstitial Lung Disease and Anti-EJ Antibodies
Conclusions: Our case adds to the growing spectrum of inflammatory myopathies and highlights the importance of performing a comprehensive, multisystem workup.
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Case Review Source Type: research