Neuromuscular Disorders

Jessica Mella, Viviana Pérez, Diego Zelada, Nicolás Moreno, Ariel Ionescu, Eran Perlson, Juan Pablo Henríquez June 21, 2019

The establishment, maturation and maintenance of functional contacts between motor neurons and skeletal muscles at the neuromuscular junction (NMJ) are essential events for the coordinated movement of many organisms. The main morphological features leading to embryonic NMJ formation have been well described; axonal growth cones differentiate into presynaptic terminals, whereas the innervated portion of the muscle membrane aggregates acetylcholine receptors (AChRs) on its surface.… Read More...

Marion Brisset, Rabah Ben Yaou, Robert-Yves Carlier, Anais Chanut, Guillaume Nicolas, Norma B. Romero, Karim Wahbi, Camille Decrocq, France Leturcq, Pascal Laforêt, Edoardo Malfatti June 19, 2019

Emery-Dreifuss muscular dystrophy (EDMD) is an early-onset, usually in the first decade, slowly progressive myopathy [1]. EDMD is mainly caused either by mutations in EMD gene encoding emerin in X-linked EDMD (X-EDMD) [2], or mutations in LMNA gene encoding lamins A and C in autosomal dominant and recessive forms [3].… Read More...

WooJoong Kim, Young Kyu Shim, Sun Ah Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae June 19, 2019

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired immune-mediated disease of the peripheral nervous system. CIDP is traditionally described as progressive symmetric weakness of all limbs over the course of at least 8 weeks [1]. It is observed in patients of all ages but is much rarer in pediatric patients, with a prevalence of less than 0.5 per 100,000 [2,3].… Read More...

Victor Dubowitz June 19, 2019

In a recent commentary in the online website of the Support Group of SMA, it was claimed that scientists had been able to replicate all the Types of human SMA, including Type 4, in a drosophila model of SMA [1]. This sounded bizarre as the different “Types” of SMA are based on the achievement of various motor milestones, such as ability to sit unsupported (“Type 2”) and the ability to stand and walk (“Type 3”.) There is no “Type 4” but it was an effort of the clinicians to separate the classical ambulant cases with onset in adolescence, as described by Kugelberg and Welander in 1956 [2], from the later onset “adult” cases with onset after the age of 21.… Read More...

Victor Dubowitz June 19, 2019

Since the launch of Neuromuscular Disorders in 1990, there have been a series of cataclysmic events, which have turned the traditional approach to scientific publishing completely on its head. The meticulous search of the literature to acknowledge earlier publications is now a thing of the past and references are often restricted to recently published on-line papers.… Read More...

Bogdan Bjelica, Stojan Peric, Kelly Gwathmey, Reza Sadjadi, Ivo Bozovic, Ted M. Burns, Ivana Basta June 18, 2019

Abstract

Introduction

To date there are only two validations on the Chronic Acquired Polyneuropathy Patient‐Reported Index (CAPPRI) questionnaire, both originated from the North America. We sought to translate and validate CAPPRI for use in Serbian patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).… Read More...

James Triplett, Garth Nicholson, Carolyn Sue, Thorsten Hornemann, Con Yiannikas June 15, 2019

Hereditary sensory and autonomic neuropathy type I (HSAN‐1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and SPTLC2 genes. We present two generations of a single family with Ser384Phe mutation in the SPTLC2 gene located on chromosome 14q24 characterized by a typical HSAN‐1c presentation, with additional findings upper motor neuron signs, early demyelinating features on nerve conduction studies, and type II juxtafoveal retinal telangiectasias also known as macular telangiectasias (MacTel II).… Read More...

Andoird App
Loading...