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Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III
CONCLUSION: This study identified metabolic markers are promising candidate prognostic factors for SMA. We also identified the metabolic pathways associated with the severity of SMA. These assessments can help predict the outcomes of screening SMA classification biomarkers.PMID:38615366 | PMC:PMC11016346 | DOI:10.1111/cns.14718 (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - April 14, 2024 Category: Neuroscience Authors: Mengnan Lu Xueying Wang Na Sun Shaoping Huang Lin Yang Dan Li Source Type: research

Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Acta Myol. 2024 Mar 31;43(1):1-7. doi: 10.36185/2532-1900-402. eCollection 2024.ABSTRACTHereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult lif...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Oscar Crisafulli Angela Berardinelli Giuseppe D'Antona Source Type: research