J Child Neurol
Neurology Division, Department of Pediatrics, Baskent University Adana Teaching and Medical Research Center, Seyhan, Adana, Turkey.
Published: March 2015
Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al (J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient's situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1177/0883073814550497 | DOI Listing |
Neurology
January 2025
The Dubowitz Neuromuscular Centre, Developmental Neurosciences Department, University College London, Great Ormond Street Institute of Child Health, United Kingdom.
Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.
View Article and Find Full Text PDFCureus
December 2024
Department of Community Medicine, GSVM Medical College, Kanpur, IND.
Background: Cerebral palsy (CP), traumatic spinal cord injury (SCI), and muscular dystrophy (MD), among the various other neurological disorders, are major global health problems because they are chronic disorders with no curative treatments at present. Current interventions aim to relieve symptoms alone and therefore emphasize the necessity for new approaches.
Objective: This study aims to assess the safety and efficacy of autologous bone marrow-derived mononuclear cell (BM-MNC) therapy in patients with CP, traumatic SCI, and MD.
In motoneurons, spatiotemporal dendritic patterns are established in the ventral nerve cord. While many guidance cues have been identified, the mechanisms of temporal regulation remain unknown. Previously, we identified the actin modulator Cdc42 GTPase as a key factor in this process.
View Article and Find Full Text PDFSpine Deform
January 2025
Department of Orthopaedic Surgery, Scottish Rite Hospital for Children, Dallas, TX, USA.
Purpose: The etiology of early-onset scoliosis (EOS) has been shown to significantly influence baseline parent-reported health-related quality of life (HrQOL). In combining these etiology groups, we obligatorily lump together many disparate diagnoses, particularly true in the neuromuscular (NM) cohort. We sought to evaluate the influence of underlying neuromuscular diagnosis on the HrQOL at 5 years following surgery for EOS.
View Article and Find Full Text PDFBrain
January 2025
Department of Biomedical Sciences, Iowa State University, Ames, IA, 50011, USA.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!
© LitMetric 2025. All rights reserved.