Results 21 to 30 of about 37,969 (302)

A trigger-happy soldier with bilateral ptosis and dysphagia

open access: yesBiomedical Journal, 2015
Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj   +1 more source

Pontocerebellar Hypoplasia Type 1

open access: yesPediatric Neurology Briefs, 2009
Slowly progressive cerebellar ataxia in a 12-year-old Indian boy with early onset anterior horn cell spinal muscular atrophy is reported from the Department of Pediatric Neurology, Government Medical College, Kerala, India.
J Gordon Millichap
doaj   +1 more source

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report

open access: yesJournal of Cardiothoracic Surgery, 2023
Introduction Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy.
Mehmet Biçer   +3 more
doaj   +1 more source

Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity

open access: yesCase Reports in Medicine, 2018
Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch   +3 more
doaj   +1 more source

The use of sugammadex in a patient with Kennedy′s disease under general anesthesia

open access: yesSaudi Journal of Anaesthesia, 2014
Kennedy′s disease (KD), also known as spinal and bulbar muscular atrophy, is a rare, X-linked recessive, neurodegenerative disorder of the lower motor neurons characterized by progressive bulbar and appendicle muscular atrophy. Here we report a case of a
Risa Takeuchi   +3 more
doaj   +1 more source

Regulation of Skeletal Muscle Atrophy in Cachexia by MicroRNAs and Long Non-coding RNAs

open access: yesFrontiers in Cell and Developmental Biology, 2020
Skeletal muscle atrophy is a common complication of cachexia, characterized by progressive bodyweight loss and decreased muscle strength, and it significantly increases the risks of morbidity and mortality in the population with atrophy.
Rui Chen   +4 more
doaj   +1 more source

Axonal Neuropathy with Neuromyotonia

open access: yesPediatric Neurology Briefs, 2014
Investigators from the Children's Hospital, Coimbra, Portugal, and centers in Belgium, report a 16-year-old girl with consanguineous parents who presented with progressive distal muscular atrophy and weakness, beginning at age 6 years.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Rehabilitation in spinal muscular atrophy

open access: yesThe Journal of the International Society of Physical and Rehabilitation Medicine, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead   +3 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

open access: yesMolecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies

open access: yesArquivos de Neuro-Psiquiatria
Background Spinal muscular atrophy (SMA-5q) is a neurodegenerative disease characterized by progressive muscle atrophy, hypotonia, and weakness, with SMA 1 presenting symptoms within the first 6 months of life. Disease-modifying therapies have
Brenda Klemm Arci Mattos de Freitas Alves   +3 more
doaj   +1 more source

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