• Filter By:
• Specialty
• Source
• Condition
• Cancer
• Infectious Disease
• Drug
• Training
• Management
• Procedure
• Therapy
• Vaccine
• Nutrition
• Country

129 Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) presenting as refractory myositis: a case series
The idiopathic inflammatory myopathy (IIMs) are a rare heterogenous group of immune-mediated diseases leading to muscle inflammation. Prompt and accurate diagnosis is important so that immunosuppressive treatment can commence and irreversible tissue damage be avoided. Other rare conditions may mimic IIM, making confirmation of diagnosis sometimes difficult. Limb girdle muscular dystrophy type R12 (LGMD 2L, anoctaminopathy) is a recessive genetic myopathy which may present in adulthood and is caused by pathogenic variants in the ANO5 gene. Clinical pres- entation can vary from asymptomatic hyper-CK-aemia to exertional myalg...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Marago, I., Chinoy, H., Roberts, M., Roncaroli, F., Duplessis, D., Marini-Bettolo, C., Lilleker, J. Tags: Live Poster, 13 May Poster Session 1 Source Type: research

What Are Some Initial Evaluations for Suspected Congenital Muscle Diseases?
Discussion Usually congenital myopathies (CM, e.g. nemaline, core, centronuclear myopathies, etc.) and congenital muscular dystrophy (CMD, e.g. LAMA2-related, collage VI-related, alpha-dystroglycan-related muscular dystrophy, etc.) have been diagnosed based on physical examination and histopathology. Traditionally CMs are due to problems with the muscle contractile apparatus and structures that assist excitation-contraction coupling. CMD are due to problems with the extracellular matrix, muscle membrane and sarcolemmal membrane. Differentiating between CM and CMD have become more blurred as genetic testing and additional r...
Source: PediatricEducation.org - January 17, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

A Muscle Biosignature Differentiating Between Limb-Girdle Muscular Dystrophy and Idiopathic Inflammatory Myopathy on Magnetic Resonance Imaging
Conclusions: MRI could be a valuable tool to differentiate LGMD from IIM based on the discrepancy in muscle fat substitution, and the adductor magnus muscle could provide a biosignature to categorizing LGMD.
Source: Frontiers in Neurology - December 20, 2021 Category: Neurology Source Type: research

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.
We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy. PMID: 33518658 [PubMed - in process]
Source: International Heart Journal - February 2, 2021 Category: Cardiology Tags: Int Heart J Source Type: research

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
ConclusionsWe conclude that skeletal muscle MRI represents a useful tool in the diagnostic workup and clinical management of LGMDR1.
Source: Journal of Neurology - September 24, 2019 Category: Neurology Source Type: research

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research

Myositis-specific autoantibodies, a cornerstone in immune-mediated necrotizing myopathy
Publication date: Available online 11 January 2019Source: Autoimmunity ReviewsAuthor(s): Céline Anquetil, Olivier Boyer, Nadège Wesner, Olivier Benveniste, Yves AllenbachAbstractOver the past few years, myositis-specific autoantibodies played an increasing role in the inflammatory idiopathic myositis definition. They became the critical immunological marker for immune-mediated necrotizing myopathy diagnosis (IMNM) since the paradigm switch from histological to serological criteria.This review is focused on the key role of the anti-signal recognition particle (anti-SRP) and the anti-3-Hydroxy-3-MethylGlutaryl-Coenzyme A R...
Source: Autoimmunity Reviews - February 26, 2019 Category: Allergy & Immunology Source Type: research

What Is in the Myopathy Literature?
We review the development of exon 51 skipping therapy with eteplirsen for Duchenne muscular dystrophy, including the recent report of long-term, sustained dystrophin production. Studies of the late-life health profile of patients with Duchenne muscular dystrophy, early detection of left ventricular systolic dysfunction, and caregiver burden are also covered. A study of skeletal muscle magnetic resonance imaging in dysferlinopathies provides an extensive, detailed map of the involved muscles and consistency across phenotypes. Regarding the category of autoimmune myopathies, we discuss an article on the clinical and laborato...
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Review Article Source Type: research

Review: Myositis-specific autoantibodies, a cornerstone in immune-mediated necrotizing myopathy
Publication date: Available online 11 January 2019Source: Autoimmunity ReviewsAuthor(s): Céline Anquetil, Olivier Boyer, Nadège Wesner, Olivier Benveniste, Yves AllenbachAbstractOver the past few years, myositis-specific autoantibodies played an increasing role in the inflammatory idiopathic myositis definition. They became the critical immunological marker for immune-mediated necrotizing myopathy diagnosis (IMNM) since the paradigm switch from histological to serological criteria.This review is focused on the key role of the anti-signal recognition particle (anti-SRP) and the anti-3-Hydroxy-3-MethylGlutaryl-Coenzyme A R...
Source: Autoimmunity Reviews - January 12, 2019 Category: Allergy & Immunology Source Type: research

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of < b > < i > DES < /i > < /b > and < b > < i > CAPN3 < /i > < /b > Mutations
We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he underwent multiple neurological and rheumatological evaluations and was treated for possible inflammatory myopathy. He did not respond to any treatment that was prescribed and was referred to our center for another opinion. He underwent a neurological evaluation, electromyography, magnetic resonance imaging of his legs, and a muscle biopsy. All testing indicated a chronic myopathy without inflammatory features suggesting a genetic myopathy. Whole-exome sequencing test...
Source: Case Reports in Neurology - September 18, 2018 Category: Neurology Source Type: research

Limb-girdle muscular dystrophy i
The limb-girdle muscular dystrophy type 2L (LGMD2L) is caused by recessive mutations in ANO5. The disorder usually involves asymmetrically the scapular muscles, but a distal myopathy is reported too. Other distinctive features are pain following exercises and preferential/more severe male involvement. Despite reports suggesting it as the third most common LGMD in Northern Europe, there is no report of LGMD2L in the Brazillian population. The patients were submitted to neurological evaluation, electroneuromyography (ENMG) and muscle magnetic resonance imaging (MRI).
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: A. Coimbra Neto, T. Leoni, T. Rosa, C. Iwabe-marchese, A. Martinez, A. Nucci, M. Franca Source Type: research

First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features
Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric weakness, accompanied by increased creatine kinase (CK) levels, dystrophic pathological changes and electromyography showing myogenic damage. To date, familial LGMD2L was reported in European countries and had not been reported in China. A careful investigation of the clinical manifestations, muscle performance imaging, biopsy, and target next-generation sequencing (NGS) technology was utilized to identify pathogenic genetic variants in a 4-generation pedigree that include...
Source: Medicine - September 1, 2018 Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.
Conclusions: EDMD, LGMD and advanced-staged L-CMD subtypes showed similar pattern of muscle MRI changes, while early-staged L-CMD showed somewhat different changes. Muscle MRI of L-CMD with a muscular dystrophy pattern in MRI provided important clues for differentiating it from childhood inflammatory myopathy. The fatty infiltration score could be used as a reliable biomarker for outcome measure of disease progression. PMID: 29893365 [PubMed - in process]
Source: Chinese Medical Journal - June 13, 2018 Category: General Medicine Authors: Lin HT, Liu X, Zhang W, Liu J, Zuo YH, Xiao JX, Zhu Y, Yuan Y, Wang ZX Tags: Chin Med J (Engl) Source Type: research

INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.
Abstract Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with three affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c.149T>C; p.(Ile50Thr)] in INPP5K. Inositol polyphosphate-5-phosphatase K, encoded by INPP5K, is involved in dephosphorylation of phosphatidylinositol (PtdIns) 4,5-bisphosphate, and PtdIns 3,4,5-trisphosphate. Recently, pathogenic variants in INPP5K have been reported in families with congenital muscular dystrophies, intellectual disability, and cataract. In our ...
Source: Clinical Genetics - September 22, 2017 Category: Genetics & Stem Cells Authors: Yousaf S, Sheikh SA, Riazuddin S, Waryah AM, Ahmed ZM Tags: Clin Genet Source Type: research

Pages: 1  2