Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion [0.03%]
C9orf72扩张患者的呼吸系统起病的肌萎缩侧索硬化症
Reece M Hass,Sandra Reiter-Campeau,Ruple S Laughlin et al.
Reece M Hass et al.
Respiratory-onset amyotrophic lateral sclerosis (ALS) is uncommon, accounting for less than 5% of all patients with ALS. Familial ALS is also uncommon, with the most common variant being related to a C9orf72 hexanucleotide repeat expansion....
Progressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation [0.03%]
mt-TL1基因m.3251A>G突变所致进行性肌病及呼吸衰竭的7岁男孩
Daria Hoang,Alan Pestronk,Jafar Kafaie
Daria Hoang
We report a pediatric case of severe isolated mitochondrial myopathy because of the rare m.3251A>G variant of the MT-TL1 gene. A 7-year-old boy presented to the hospital with acute-on-chronic weakness and respiratory insufficiency. Initial ...
Exploring Intimacy in Amyotrophic Lateral Sclerosis: A Pilot Study of Educational Support in a Multidisciplinary Clinic [0.03%]
肌萎缩侧索硬化症中的亲密关系探究：多学科诊所中教育支持作用的试点研究
Cassie Kuhn,Mark Bromberg,Amber Margolis et al.
Cassie Kuhn et al.
Objective: This pilot study explored the feasibility and perceived usefulness of an educational intervention on intimacy delivered within a multidisciplinary ALS clinic. ...
Michael Isfort,David Lacomis
Michael Isfort
This update begins with a discussion of treatable lipid storage myopathies associated with the use of sertraline and ranolazine. We then turn to monoclonal gammopathy-associated myopathies including a more recently identified disorder that ...
Unusual Presentation of Viral Myositis With Isolated Distal Upper Extremity Weakness [0.03%]
以孤立的远端上肢无力为表现的病毒性肌炎的特殊表现形式
Jonah Nordeen,Cynthia Nguyen,Kalyn M Dyer et al.
Jonah Nordeen et al.
Neuromuscular Ultrasound Findings in Monomelic Amyotrophy (Hirayama Disease) [0.03%]
单肢肌萎缩（平田病）的神经肌肉超声表现
Lauren C Cooper,Thomas G West,Michael S Cartwright
Lauren C Cooper
Taylor Watson-Fargie,Caroline Carmichael,Samuel Alexander Hayes et al.
Taylor Watson-Fargie et al.
Pedro Nogueira Fontana,Carolina da Cunha Correia,Ana Marina Dutra Ferreira da Silva et al.
Pedro Nogueira Fontana et al.
Objectives: Synaptotagmin-2-related disease is an ultrarare entity, characterized by distal muscle atrophy in the lower limbs, foot deformities and, in some cases, neonatal hypotonia. Most mutations are concentrated in th...
Joshua Smith,David Lacomis
Joshua Smith
The review begins with epidemiology studies that show an increased incidence of later onset myasthenia gravis (MG) and higher short-term mortality rates, especially in females, compared with the general population in Denmark. In the United ...