Spinal muscular atrophy (SMA) is a rare neuromuscular disease that develops as a result of the degeneration of the anterior horn cells in the spinal cord and lower brainstem motor nuclei, resulting in progressive muscle weakness and atrophy. While the initial presentation of this disease involves diffuse muscular atrophy at an early age, patients with an established diagnosis and later-stage disease often present with gastrointestinal symptoms related to metabolic imbalances. Here, we examine the case of an adult patient with SMA type II who presented with complaints of 12 hours of intractable nausea and vomiting. The patient was found to be in euglycemic ketoacidosis (EKA), an uncommon, but not unheard of, metabolic derangement in SMA patients with severely decreased muscle mass.
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http://dx.doi.org/10.7759/cureus.45666 | DOI Listing |
Brain Dev
January 2025
Department of Pediatrics, Aichi Medical University School of Medicine, Nagakute, Japan.
Background: Most cases of spinal muscular atrophy (SMA) can be diagnosed by copy number analysis of survival motor neuron (SMN) 1. However, a small number of cases of SMA can only be diagnosed by sequencing analysis. We present a case of SMA diagnosed 7 years after the onset of symptoms.
View Article and Find Full Text PDFMetab Brain Dis
January 2025
Hepato-Neuro Laboratory, Centre Hospitalier de l'Université de Montréal (CRCHUM), Université de Montréal, 900, Rue Saint-Denis - Pavillon R, R08.422, Montréal (Québec), H2X 0A9, Canada.
Sarcopenia and hepatic encephalopathy (HE) are complications of chronic liver disease (CLD), which negatively impact clinical outcomes. Hyperammonemia is considered to be the central component in the pathogenesis of HE, however ammonia's toxic effects have also been shown to impinge on extracerebral organs including the muscle. Our aim was to investigate the effect of attenuating hyperammonemia with ornithine phenylacetate (OP) on muscle mass loss and associated molecular mechanisms in rats with CLD.
View Article and Find Full Text PDFCurr Osteoporos Rep
January 2025
Norwich Medical School, University of East Anglia, Norwich, NR4 7TJ, UK.
Purpose Of Review: This review aims to summarise recent evidence on the effects of dietary patterns on the risk of bone fractures and sarcopenia.
Recent Findings: Several dietary patterns have been investigated in relation to musculoskeletal health, including Mediterranean Dietary Patterns (MDP), Dietary Inflammatory Indices, vegetarian and vegan diets. Adherence to 'healthier' dietary patterns appears to be protective against fractures and sarcopenia, with the strongest protective associations found between the MDP and fractures.
Int J Neonatal Screen
January 2025
Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of using dried blood spot (DBS) samples.
View Article and Find Full Text PDFAdv Healthc Mater
January 2025
Department of Intelligent Precision Healthcare Convergence, Sungkyunkwan University (SKKU), Suwon, 16419, Republic of Korea.
Peripheral nerve injury is a common disease resulting in reversible and irreversible impairments of motor and sensory functions. In addition to conventional surgical interventions such as nerve grafting and neurorrhaphy, nerve guidance conduits are used to effectively support axonal growth without unexpected neuroma formation. However, there are still challenges to secure tissue-mimetic mechanical and electrophysiological properties of the conduit materials.
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