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Source: Neuromuscular Disorders
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Total 1514 results found since Jan 2013.
Myopathies presenting with head drop: clinical spectrum and treatment outcomes
Dropped head syndrome (DHS) can be the presenting feature of a wide spectrum of neurological conditions affecting the central and peripheral nervous systems, and can be due to underlying neck extension weakness or dystonia. Among central disorders, DHS can be seen in patients with parkinsonism (Parkinson disease or multiple system atrophy) where it can be due to underlying dystonia, myopathy, or a combination of both. [1,2] Among neuromuscular disorders, DHS can be the presenting symptom of an underlying motor neuron disease, defect of neuromuscular transmission (including myasthenia gravis, congenital myasthenia and Lambe...
Source: Neuromuscular Disorders - December 11, 2019 Category: Neurology Authors: Reem M. Alhammad, Elie Naddaf Source Type: research
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
Nemaline myopathy (NM) is a heterogeneous muscular congenital myopathy which is slowly progressive or non-progressive disease. The estimated prevalence of NM is 1:50,000 live births and the mode of inheritance is autosomal recessive, dominant or de novo [1 –3]. It is associated with limb and respiratory muscle weakness and appearance of “thread like” structures, or nemaline bodies, in muscle fibres [4]. The clinical spectrum ranges from severe neonatal onset associated with early death to late onset with slow progression [5,6].
Source: Neuromuscular Disorders - November 30, 2019 Category: Neurology Authors: Shpresa Pula, Kathryn Urankar, Andrew Norman, Germaine Pierre, Simon Langton-Hewer, Victoria Selby, Faye Mason, Kayal Vijayakumar, Robert McFarland, Robert W. Taylor, Anirban Majumdar Tags: Case Report Source Type: research
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy
FHL1-related myopathies are a group of clinically and pathologically heterogeneous disorders caused by mutations in the FHL1 gene. The FHL1 gene is located on Xq26.3 and encodes a 32-kDa protein containing an N-terminal zinc finger/half LIM domain followed by four complete LIM domains [1]. FHL1A, FHL1B and FHL1C are the three main splicing isoforms of this gene with different tissue localizations and protein interactions. In a muscle biopsy, intracytoplasmic inclusions, which reduce nitroblue tetrazolium (NBT) and exhibit strong menadione-NBT staining without α-glycerophosphate substrate, are called reducing bodies.
Source: Neuromuscular Disorders - November 27, 2019 Category: Neurology Authors: Ting Chen, Xianghui Lu, Qiang Shi, Junhong Guo, Huifang Wang, Qian Wang, Xi Yin, Yutong Zhang, Chuanqiang Pu, Dong Zhou Source Type: research
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
FHL1-related myopathies are a group of clinically and pathologically heterogeneous disorders caused by mutations in the FHL1 gene. The FHL1 gene is located on Xq26.3 and encodes a 32-kDa protein containing an N-terminal zinc finger/half LIM domain followed by four complete LIM domains [1]. FHL1A, FHL1B and FHL1C are the three main splicing isoforms of this gene with different tissue localizations and protein interactions. In a muscle biopsy, intracytoplasmic inclusions, which reduce nitroblue tetrazolium (NBT) and exhibit strong menadione-NBT staining without α-glycerophosphate substrate, are called reducing bodies.
Source: Neuromuscular Disorders - November 27, 2019 Category: Neurology Authors: Ting Chen, Xianghui Lu, Qiang Shi, Junhong Guo, Huifang Wang, Qian Wang, Xi Yin, Yutong Zhang, Chuanqiang Pu, Dong Zhou Source Type: research
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
Mutations in DNAJB6 were identified in 2012 to cause autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D, OMIM 603511; current proposed nomenclature LGMD D1 DNAJB6-related) [1,2]. Later, several other DNAJB6 mutations have been identified in Asian, European and North American populations [3 –11]. Interestingly, all reported mutations have affected the glycine/phenylalanine-rich (G/F) domain of DNAJB6. LGMD1D was originally described as late-onset, slowly progressive disease, most patients remained ambulant even at high age.
Source: Neuromuscular Disorders - November 18, 2019 Category: Neurology Authors: Johanna Palmio, Per Harald Jonson, Michio Inoue, Jaakko Sarparanta, Rocio Bengoechea, Marco Savarese, Anna Vihola, Manu Jokela, Masanori Nakagawa, Satoru Noguchi, Montse Oliv é, Marion Masingue, Emilia Kerty, Peter Hackman, Conrad C. Weihl, Ichizo Nishin Source Type: research
GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics
GNE myopathy is a rare disease, which is also known by other names like Nonaka myopathy, distal myopathy with rimmed vacuoles-DMRV, hereditary inclusion body myopathy-HIBM, Inclusion body myopathy 2-IBM2 and quadriceps sparing myopathy. It has a prevalence of 1-21/1000,000 population. [1 –5] It is an autosomal recessive disease caused by bi-allelic inheritance of variable mutations in the GNE gene on chromosome 9, encoding a bifunctional enzyme- uridine diphosphate-N-acetylglucosamine 2-epimerase /N-acetylmannosamine kinase required in sialic acid- 5-N-acetylneuraminic acid (Neu5A c) synthesis, which in turn plays a role...
Source: Neuromuscular Disorders - November 7, 2019 Category: Neurology Authors: Gaurav Gomez, Meeka Khanna, Anupam Gupta, Atchayaram Nalini, K. Thennarasu, Saraswati Nashi, Kiran Polavarapu, Seena Vengalil Source Type: research
GNE myopathy- A cross-sectional study on spatio-temporal gait characteristics
GNE myopathy is a rare disease, which is also known by other names like Nonaka myopathy, distal myopathy with rimmed vacuoles-DMRV, hereditary inclusion body myopathy-HIBM, Inclusion body myopathy 2-IBM2 and quadriceps sparing myopathy. It has a prevalence of 1-21/1,000,000 population. [1 –5] It is an autosomal recessive disease caused by bi-allelic inheritance of variable mutations in the GNE gene on chromosome 9, encoding a bifunctional enzyme- uridine diphosphate-N-acetylglucosamine 2-epimerase /N-acetylmannosamine kinase required in sialic acid- 5-N-acetylneuraminic acid (Neu5A c) synthesis, which in turn plays a rol...
Source: Neuromuscular Disorders - November 7, 2019 Category: Neurology Authors: Gaurav Gomez, Meeka Khanna, Anupam Gupta, Atchayaram Nalini, K. Thennarasu, Saraswati Nashi, Kiran Polavarapu, Seena Vengalil Source Type: research
Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases.
Congenital fiber type disproportion (CFTD, MIM #255310) is a histologically and genetically heterogeneous type of congenital myopathy defined by slow type1 fiber hypotrophy in the absence of any other major structural abnormalities in the skeletal muscle tissue [1]. Clinically patients manifest with a variable range of hypotonia and generalized muscle weakness at birth, developing with a high-arched palate, proximal weakness and thoracic and spinal deformities and contractures. Respiratory involvement is described in 30% of the patients.
Source: Neuromuscular Disorders - November 6, 2019 Category: Neurology Authors: Cristiane de Ara újo Martins Moreno, Eduardo de Paula Estephan, Alan Fappi, Soledad Monges, Fabiana Lubieniecki, Osório Lopes Abath Neto, Umbertina Conti Reed, Sandra Donkervoort, Matthew B. Harms, Carsten Bonnemann, Edmar Zanoteli Tags: Case report Source Type: research
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases
Congenital fiber type disproportion (CFTD, MIM #255310) is a histologically and genetically heterogeneous type of congenital myopathy defined by slow type 1-fiber hypotrophy in the absence of any other major structural abnormalities in the skeletal muscle tissue [1]. Clinically patients manifest with a variable range of hypotonia and generalized muscle weakness at birth, developing with a high-arched palate, proximal weakness and thoracic and spinal deformities and contractures. Respiratory involvement is described in 30% of the patients.
Source: Neuromuscular Disorders - November 6, 2019 Category: Neurology Authors: Cristiane Ara újo Martins Moreno, Eduardo de Paula Estephan, Alan Fappi, Soledad Monges, Fabiana Lubieniecki, Osório Lopes Abath Neto, Umbertina Conti Reed, Sandra Donkervoort, Matthew B. Harms, Carsten Bonnemann, Edmar Zanoteli Tags: Case report Source Type: research
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency
Glycogenin-1 deficiency is a rare disorder that belongs to the group of diseases known as glycogen storage disorders (GSDs). Muscle GSDs are recessively inherited disorders of glycogen metabolism that are histopathologically characterized by storage or depletion of glycogen in muscle fibers [1, 2]. Clinically, the patients may present with exercise intolerance with muscle pain and cramps, frequently followed by myoglobinuria, or they may present with stationary, slowly progressive muscle weakness [3].
Source: Neuromuscular Disorders - October 21, 2019 Category: Neurology Authors: Carola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, Klaus B öck, Kittichate Visuttijai, Georg Caravias, Ana Töpf, Volker Straub, Jonathan Baets, Anders Oldfors Source Type: research
Early onset facioscapulohumeral muscular dystrophy – long-term follow-up of a patient with total facial diplegia
Facioscapulohumeral muscular dystrophy (FSHD) type 1 is a common muscular dystrophy with an estimated prevalence of 1 in 15,000 caused by a heterozygous contraction of D4Z4 repeats on a chromosome with a 4qA haplotype [1]. The classical phenotype includes facial weakness followed sequentially by scapular fixator, humeral, truncal, and lower-extremity weakness. However, the clinical picture is diverse and often atypical including scapular or scapuloperoneal muscular dystrophy, infantile facial diplegia, limb girdle muscular dystrophy, distal or monomelic myopathy and bent spine syndrome.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: Sabine Rudnik-Sch öneborn, Martina Huemer, Joachim Weis, Elizabeta Sauer, Gerhard Meng Tags: Case report Source Type: research
O.39ASPIRO phase 1/2 gene therapy trial in X-linked motubular myopathy (XLMTM): update on preliminary safety and efficacy findings
XLMTM is a rare monogenic disease caused by mutations in the MTM1 gene, characterized by profound muscle weakness, respiratory failure, and early death. ASPIRO is an ongoing Phase 1/2, open-label, randomized, ascending dose study (NCT03199469) to evaluate safety and preliminary efficacy of AT132 (rAAV8-Des-hMTM1), an investigational gene therapy for delivery of functional MTM1 gene copies to skeletal muscle cells. Patients (pts) with XLMTM, less than 5 years old, were randomized to drug or delayed control, and enrolled into ascending dose cohorts to receive a single AT132 infusion.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: J. Dowling, P. Shieh, N. Kuntz, C. Bonnemann, W. Muller-Felber, M. Lawlor, L. Servais, B. Smith, M. Noursalehi, S. Rico, S. Prasad Source Type: research
EP.133Biallelic mutations in Tenascin X, TNXB cause slowly progressive asymmetric myopathy with mild joint dislocations and connective tissue alterations
We describe a 46-year-old woman born to non-consanguineous healthy French parents, who reported slowly progressive lower limbs weakness since 28 years. She had difficulties in squatting, getting up from a chair, and, from 35 years, climbing stairs. She also reported myalgias, peripheral vascular disease in hands, joint hypermobility, multiples sprains, dislocation of the 5th finger, conjunctival hemorrhages, and colon perforation during a colonoscopy.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Brisset, C. Metay, N. Romero, R. Carlier, C. Badosa, C. Marques, C. Jimenez-Mallebrera, P. Laforet, E. Malfatti Source Type: research
EP.132Central core myopathy in Chinese patients with Nav1.4 p.R675Q mutation
Nav1.4 (SCN4A) p.R675Q is the most common mutation in Chinese patients with skeletal muscle sodium channelopathies. Two patients with R675Q mutation from different neuromuscular diagnosis centers complained of fixed myopathy and recurrent periodic paralysis. Muscle biopsy on biceps were performed for both patients. Clinical features as well as muscle MRI in bilateral lower limbs were retrospectively reviewed. To further explore the underlying mechanism of the central core-like pathology, we performed the immunofluorescence staining (IF) and western blot of Ryanodine receptor-1 (RYR1) and calcium channel voltage-dependent L...
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: J. Sun, S. Luo, M. Gao, K. Qiao, H. Lv, C. Zhao Source Type: research
EP.131Novel ACTA1 mutation causes late-onset nemaline myopathy with fuzzy-dark cores
We report clinical, muscle imaging and histopatological data from an Italian family harboring a novel ACTA1 mutation with peculiar histopathological findings.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Garibaldi, F. Fattori, E. Bucci, G. Merlonghi, L. Fionda, F. Vanoli, L. Leonardi, S. Morino, A. Micaloni, S. Raffa, E. Bertini, E. Pennisi, G. Antonini Source Type: research
