Results 121 to 130 of about 11,333 (226)

More than a bystander: The contributions of intrinsic skeletal muscle defects in motor neuron diseases

Frontiers in Physiology, 2013
Spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) and spinal-bulbar muscular atrophy (SBMA) are devastating diseases characterized by the degeneration of motor neurons.
Justin G. Boyer, Justin G. Boyer, Andrew eFerrier, Andrew eFerrier, Rashmi eKothary, Rashmi eKothary, Rashmi eKothary   +6 more
doaj   +1 more source

Pathogenesis of amyotrophic lateral sclerosis [PDF]

, 2016
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly progressive neurodegenerative disorder. The primary involvement is of motor neurons in the brain, spinal cord and peripherally. There is secondary weakness of muscles
Morgan, S, Orrell, RW
core   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

V. Spinal and Bulbar Muscular Atrophy (SBMA) and Bulbar Muscular Atrophy (SMA)

Nihon Naika Gakkai Zasshi, 2022
Shinichiro Yamada, Tomoki Hirunagi, Kentaro Sahashi, Masahisa Katsuno   +3 more
openaire   +1 more source

A Personal Exploration of Oral Health in Amyotrophic Lateral Sclerosis (ALS) Through the Eyes of a Multifaceted Authority

Journal of Oral Rehabilitation, Volume 53, Issue 5, Page 1059-1064, May 2026.
This study resulted in agendas to improve oral health care, research, and education, advocating for a shift in ALS oral health care: from neglect to proactive integration. ABSTRACT Background and Objective Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that impairs motor function, including oral musculature, complicating
Merel C. Verhoeff, Maurits K. A. van Selms, Frank Lobbezoo   +2 more
wiley   +1 more source

Motor neuronopathy with dropped hands and downbeat nystagmus: A distinctive disorder? A case report [PDF]

, 2006
Background Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus.
Nimish J Thakore, Erik P Pioro, Janet C Rucker, R John Leigh, RJ Leigh, K Okamoto, T Mizutani, S Shaunak, I Evdokimidis, L Averbuch-Heller, MJ Kushner, M Gizzi, J Marti-Fabregas, JC Rucker, FE Lepore, T Kanda, AA Sima, C Pierrot-Deseilligny, C Helmchen, BR Brooks, G Antonini, C Tilikete, KO Bushara, M Abele   +23 more
core   +2 more sources

Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects [PDF]

, 1995
Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide ...
Baas, F. (Frank), Bolhuis, P.A. (P.), Brüggenwirth, H.T. (Hennie), Busch, H.F.M. (Herman), Jong, J.M.B.V. (Vianney) de, Jöbsis, G.J. (G.), Koelman, J.H.T.M. (Johannes ), Louwerse, I. (Ilse), Visser, M. (Marianne) de, Wiersinga, W.M. (Wilmar), Wolterman, R.A. (Ruud)   +10 more
core   +1 more source

Spinal and Bulbar Muscular Atrophy – Genetic Causes, Clinical Presentation and Treatment Perspectives

Journal of Education, Health and Sport
Introduction and Purpose: Spinal bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare genetic disorder characterized by progressive muscle weakness and atrophy.
Sara Emerla, Natalia Małek, Konrad Karłowicz, Aleksandra Brożyna, Anita Kwiatkowska, Arkadiusz Bydliński, Maria Hermanowska, Julia Lubomirska, Patrycja Figurowska, Łukasz Ciulkiewicz   +9 more
doaj   +1 more source

Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families [PDF]

, 2016
Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +2 more sources