Neuromuscular Disorders

Prof. Haluk Topaloglu November 18, 2018

I have read with interest the paper by Joseph et al on Duchenne muscular dystrophy, and bone health monitoring [1]. Their patient cohort has peculiar properties. The median loss of ambulation is 10.2 years of age. About half of them were non-ambulant at the time of the study.… Read More...

Gian Luca Vita, Claudia Stancanelli, Luca Gentile, Costanza Barcellona, Massimo Russo, Gianluca Di Bella, Giuseppe Vita, Anna Mazzeo November 14, 2018

Hereditary transthyretin (TTR) amyloidosis (hATTR) is a progressive multisystemic disease transmitted as an autosomal dominant trait, characterized by axonal sensory-motor neuropathy associated with autonomic and cardiac involvement [1,2]. If untreated, fatal outcome occurs within ten years since the onset. Liver transplantation remained the only available treatment for twenty years [3], until tafamidis became in 2011 the first specific drug approved by the Regulatory Agencies [4,5].… Read More...

Luana Benedetti, Chiara Briani, Alessandro Beronio, Federico Massa, Elisa Giorli, Cinzia Sani, Paola Delia, Stefania Artioli, Maria P. Sormani, Antonio Mannironi, Antonio Tartaglione, Giovanni L. Mancardi November 13, 2018

Background

Guillain‐Barré syndrome (GBS) is an acute immune‐mediated polyradiculoneuropathy with a worldwide incidence of 0,81‐ 1,89 per 100,000 person‐years. In Europe and North America only 5% of patients with GBS have axonal subtypes, which in South America and Asia account for 30‐47% of cases.… Read More...

Víctor Antonio Blanco-Palmero, Aurelio Hernández-Laín, David Uriarte-Pérez de Urabayen, Diana Cantero-Montenegro, Montse Olivé, Cristina Domínguez-González November 13, 2018

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is caused by mutations in TCAP gene, located on chromosome 17q12 [1]. It encodes the sarcomeric protein telethonin, also called titin cap, a Z-disc protein of 19 kDa and 167 aminoacids which is present in skeletal muscle, heart and gastrointestinal smooth muscle [2,3].… Read More...

Reem M. Alhammad, Teerin Liewluck November 9, 2018

Granulomatous myopathy is a clinically and etiologically heterogeneous group of uncommon inflammatory myopathies, pathologically characterized by the presence of granulomas in skeletal muscle. Granulomas may contain necrosis as typically seen in infectious disorders (fungal, tuberculosis, or brucellosis) [1-3] or may occur without necrosis, so-called non-necrotizing or non-caseating granulomas.… Read More...

E. van Ruitenbeek, J.A.E. Custers, C. Verhaak, M. Snoeck, C. Erasmus, E.J. Kamsteeg, M.I. Schouten, C. Coleman, S. Treves, B.G. Van Engelen, H. Jungbluth, N.C. Voermans November 9, 2018

Mutations in RYR1, the gene encoding the sarcoplasmic reticulum (SR) type 1 ryanodine receptor (RyR1), have emerged as the most common genetic cause of non-dystrophic neuromuscular disorders in recent years.[1] RYR1 mutations give rise to a wide variety of myopathies presenting throughout life [2], ranging from early-onset congenital myopathies (for review, Jungbluth et al.… Read More...

Marion Masingue, Julien Fauré, Guilhem Solé, Tanya Stojkovic, Sarah Léonard-Louis November 9, 2018

Arthrogryposis is defined by reduced mobility of multiple joints and highly heterogeneous, with more than 400 genes described. Arthrogryposis can be of both dominant and recessive inheritance, and associated with other clinical features, namely orthopedic malformations, facial deformities, central nervous system (CNS) abnormalities, peripheral neuropathy or myopathy.… Read More...

Andoird App
Loading...