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Browsing Category
Neuromuscular Disorders
Peripheral neuropathy symptoms in wild type transthyretin amyloidosis
Fernanda Wajnsztajn Yungher,
Arreum Kim,
Amelia Boehme,
Inna Kleyman,
Louis H Weimer,
Mathew S Maurer,
Thomas H Brannagan
0
Abstract
Background and Aims
To propose a correlation between polyneuropathy and ATTRwt based on retrospective analysis of patients with ATTRwt.
Methods
We reviewed 151 ATTRwt patients followed by the Amyloid Cardiac Clinic (Group A) for…
Fatigue in Patients with Myasthenia Gravis. A Systematic Review of the Literature.
Myasthenia Gravis (MG) is a chronic autoimmune disease (AID) with a prevalence of 1-2 per 10.000 . The clinical hallmark is fluctuating weakness of striated muscles with antibodies directly affecting the neuromuscular junction. In…
Diabetic polyneuropathy: Bridging the translational gap
Abstract
Clinical trials for diabetic polyneuropathy (DPN) have failed to identify therapeutic impacts that have arrested or reversed the disorder, despite a long history. This review considers DPN in the context of a unique…
Diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy in clinical…
Merel C. Broers,
Pieter A. Doorn,
Krista Kuitwaard,
Filip Eftimov,
Paul W. Wirtz,
H. Stephan Goedee,
Hester F. Lingsma,
Bart C. Jacobs
0
Abstract
The diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is often a challenge. The clinical presentation is diverse, accurate biomarkers are lacking, and the best strategy to initiate and…
Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory…
Wenninger Stephan, Stahl Kristina, Wirner Corinna, Einvag Krisztina, Thiele Simone, Maggie C. Walter, Schoser Benedikt
0
Maximum inspiratory and expiratory pressures (MIP and MEP) are quick, easy and noninvasive tests for the direct measurement of the strength of respiratory muscles. MIP primarily reflects the strength of the diaphragm and secondary chest…
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like…
Albert Z. Lim, Grace McMacken, Francesca Rastelli, Monika Oláhová, Karen Baty, Sila Hopton, Gavin Falkous, Ana Töpf, Hanns Lochmüller, Chiara Marini-Bettolo, Robert McFarland, Robert W. Taylor
0
Mitochondrial DNA (mtDNA) contains 13 genes that encode essential subunits of the oxidative phosphorylation (OXPHOS) complexes, 2 rRNAs and 22 tRNAs . The mitochondrial tRNA (mt-tRNA) genes, which contribute less than 10% of the total…
Contractile properties are impaired in congenital myopathies
Anne-Sofie Vibæk Eisum, Freja Fornander, Nanna Scharff Poulsen, Annarita Ghosh Andersen, Julia Dahlqvist, Linda Kahr Andersen, Nanna Witting, John Vissing
0
A hallmark of healthy muscle is the ratio between muscle strength and muscle cross-sectional area (CSA), also called the specific strength. This ratio has been used as an index of muscle quality for more than a century (1,2). It depends on…
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES
Luh Ari Indrawati, Aritoshi Iida, Yuzo Tanaka, Yutaka Honma, Koichi Mizoguchi, Tomohisa Yamaguchi, Masamichi Ikawa, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
0
POPDC1, the protein product of the BVES gene, is predominantly expressed in striated muscles, highest in skeletal muscles . BVES variants are associated with limb-girdle muscular dystrophy autosomal recessive 25 (LGMDR25), characterized by…