Large-scale data analysis of synaptic morphology is becoming increasingly important to the field of neurobiological research (e.g. ‘connectomics’). In particular, a detailed knowledge of neuromuscular […]
BACKGROUND: The progression of DMD is characterized by loss of ambulation and upper limb function, cardiorespiratory impairment, and early mortality. OBJECTIVES: This study aimed to […]
Background: Duchenne muscular dystrophy (DMD) is the most common inherited muscle disease. The incidence of cardiomyopathy increases with age and currently represents the main death […]
Introduction Guillain-Barre Syndrome is an acute inflammatory process which can lead to progressive muscle weakness and sensory disturbances. According to Zaeem et al, approximately, 2/3 […]
Abstract: Limb girdle muscular dystrophies are among a subset of rare genetic disorders, usually caused by a monogenetic variant. There are many barriers to arriving […]
Case Description: 58-year-old male with history of chronic mild transaminase elevation presented for progressive muscle weakness and atrophy of proximal muscles in his arms and […]
Pompe disease is a rare, progressive, multisystemic disease with heterogenous presentation. We evaluated the burden, unmet needs and evolving management landscape for people living with […]
INTRODUCTION: Myasthenia Gravis (MG) is an autoimmune disorder of the neuromuscular junction leading to fatigable and fluctuating weakness most commonly affecting the extraocular, bulbar, and […]
Sodium channel myotonias are inherited muscle diseases that are caused by variants in SCN4A, which include a diverse group of muscle channelopathies with marked genotypic […]