We present magnetic resonance (MR) findings of siblings affected by spinal muscular atrophy (SMA) Type II. MRI of their thighs showed severe muscle atrophy and fatty infiltration. Selective preservation of the adductor longus muscle, the gracilis muscle, and the sartorius muscles was observed, suggesting a characteristic finding of SMA Type II. These findings were more severe in the older patient.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.2463/mrms.2.195 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
5-HT agonism as a neurotherapeutic for sarcopenia: preclinical proof of concept.
Geroscience
January 2025
Department of Physical Medicine and Rehabilitation, University of Missouri, Columbia, MO, USA.
Sarcopenia, the pathological age-related loss of muscle mass and strength, contributes to physical decline, frailty, and diminished healthspan. The impact of sarcopenia is expected to rise as the aging population grows, and treatments remain limited. Therefore, novel approaches for enhancing physical function and strength in older adults are desperately needed.
View Article and Find Full Text PDFTeaching Video NeuroImage: Minipolymyoclonus: A Clinical Clue to Spinal Muscular Atrophy.
Neurology
February 2025
Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Brazil.
Neural Stem/Progenitor Cell Therapy in Patients and Animals with Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-analysis.
Mol Neurobiol
January 2025
Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province, 050017, China.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative malady that causes progressive degeneration and loss of motor neuron function in the brain and spinal cord, eventually resulting in muscular atrophy, paralysis, and death. Neural stem/progenitor cell (NSPC) transplantation can improve bodily function in animals and delay disease progression in patients with ALS. This paper summarizes and analyzes the efficacy and safety of neural stem/progenitor cell (NSPC) transplantation as a treatment for ALS, aiming to improve function and delay disease progression in patients.
View Article and Find Full Text PDFThe Critical Importance of Early and Combination Treatment for Spinal Muscular Atrophy Type.
Muscle Nerve
January 2025
Division of Rehabilitation Medicine, Rady Children's Hospital San Diego, San Diego, California, USA.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!