Results 191 to 200 of about 80,027 (353)
Congenital arthrogryposis secondary to spinal muscular atrophy: a case report
Revista de Ciencias Médicas de Pinar del Río, 2018 Introduction: spinal muscular atrophy consists of a degeneration of the anterior antlers of the spinal cord from hereditary causes with Mendelian autosomal recessive pattern leading to progressive muscle weakness of very bad prognosis.
Hernán Pereda Chávez +2 more
doaj
Movement Disorders Clinical Practice, EarlyView.Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi +7 more
wiley +1 more source
Association between Perceived Dysphagia Symptoms and Swallowing Physiology in Parkinson's Disease
Movement Disorders Clinical Practice, EarlyView.Abstract Background Swallowing disorders are prevalent in Parkinson's disease (PD). Swallowing assessment often relies on patient‐reported outcome measures (PROMs). Although PROMs and physiologic swallowing measures correlate with disease severity, the relationship between PROMs and physiologic swallowing impairments is unclear.
Rabab Rangwala +4 more
wiley +1 more source
Two cases of Lumbar spinal canal stenosis with severe muscular atrophy of the legs
, 1977 Akio Matsuzaki +4 more
openalex +2 more sources
Molecular diagnosis of spinal muscular atrophy [PDF]
, 1998 Helen Stewart +4 more
openalex +1 more source
Corticospinal Tract Development, Evolution, and Skilled Movements
Movement Disorders, EarlyView.Abstract The evolution of the corticospinal tract (CST) is closely linked to the development of skilled voluntary movements in mammals. The main evolutionary divergence concerns the position of the CST within the spinal cord white matter and its postsynaptic targets in the grey matter.
Emmanuel Roze +2 more
wiley +1 more source
Atrofias musculares espinales no asociadas a SMN1
Revista Médica Clínica Las Condes, 2018 RESUMEN: Las atrofias musculares espinales no-5q son un conjunto de entidades hereditarias, clínica y genéticamente heterogéneas secundarias a compromiso de las células del asta anterior de la médula. No están asociadas a deleción del gen de sobrevida de
Claudia Castiglioni +1 more
doaj
Quality of Life of People With Neuromuscular Diseases: The Role of Stigma
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Stigma is thought to have a profound impact on quality of life (QoL) among people with neuromuscular diseases (NMD), but empirical evidence is limited. This study sought to explore associations of enacted stigma (social exclusion) and felt stigma (shame, fear of exclusion) with QoL.
Marion Sommers‐Spijkerman +5 more
wiley +1 more source
Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues [PDF]
, 1997 Evan Reid
openalex +1 more source
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To investigate the effects of modified central‐part laryngectomy with pharyngeal space reduction (CPL‐PR) on patients with weak deglutitive pharyngeal contraction, as seen in late‐stage amyotrophic lateral sclerosis (ALS). Study Design Retrospective case series. Setting Single‐institution academic center.
Rumi Ueha +8 more
wiley +1 more source