Six cases of diffuse muscular hypertrophy of the esophagus are reported. The clinical diagnosis is often missed and may be confused with achalasia. Some clinical features that help distinguish this disease are a sensation of "grasping" any tube or instrument introduced into the esophagus, marked sustained elevation in the baseline pressure in the body of the esophagus over a longer segment, and poor response to forced pneumatic dilatation (in those cases in which achalasia is suspected). An interesting association was the relationship with diabetes mellitus in four of the six cases described.
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http://dx.doi.org/10.1016/0002-9343(86)90627-3 | DOI Listing |
J Neurodev Disord
January 2025
Department of Radiology, The First Affiliated Hospital of Sun Yat-sen University, No 58 Zhongshan 2nd Road, Guangzhou, 510080, China.
Background: Spinal muscular atrophy (SMA) is caused by reduced expression of survival motor neuron (SMN) protein. Previous studies indicated SMA causes not only lower motor neuron degeneration but also extensive brain involvement. This study aimed to investigate the changes of brain white matter and structural network using diffusion tensor imaging (DTI) in children with type 2 and 3 SMA.
View Article and Find Full Text PDFFront Robot AI
January 2025
School of Engineering, Institute of Science Tokyo, Tokyo, Japan.
Animal muscles have complex, three-dimensional structures with fibers oriented in various directions. The tongue, in particular, features a highly intricate muscular system composed of four intrinsic muscles and several types of extrinsic muscles, enabling flexible and diverse movements essential for feeding, swallowing, and speech production. Replicating these structures could lead to the development of multifunctional manipulators and advanced platforms for studying muscle-motion relationships.
View Article and Find Full Text PDFJMIR Rehabil Assist Technol
January 2025
Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato, Consiglio Nazionale delle Ricerche, via Alfonso Corti, 12, Milan, 20133, Italy, 39 02 2369 993.
Background: Spinal cord injuries (SCIs) cause debilitating secondary conditions such as severe muscle deterioration, cardiovascular, and metabolic dysfunctions, significantly impacting patients' quality of life. Functional electrical stimulation (FES) combined with cycling exercise (FES-cycling) has shown promise in improving muscle function and health in individuals with SCI.
Objective: This pilot study aimed to investigate the potential role of multiparametric magnetic resonance imaging (MRI) to assess muscle health during and after an FES-cycling rehabilitation program.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFNeuromuscul Disord
December 2024
Service de Neuromyologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France Institut de Myologie, Sorbonne Université, APHP, Paris, France. Electronic address:
Dysferlinopathies, caused by mutations in the dysferlin gene (DYSF) encoding the dysferlin protein, are a clinically heterogeneous group of autosomal recessive muscular dystrophies whose phenotypic spectrum is still evolving. Here we described a patient reporting diffuse muscular pain non related to physical exercise, mimicking fibromyalgic syndrome. Electroneuromyography was normal.
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