A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis.

Scoliosis is a three-dimensional spinal deformity characterized by a lateral deviation of at least 10° Cobb, categorized into idiopathic and non-idiopathic forms, caused by identifiable factors like congenital abnormalities, neuromuscular conditions, or genetic syndromes. This case report discusses a 15-year-old girl with growth delay and growth hormone (GH) deficiency who experienced rapid scoliosis progression. Initial evaluations were normal, and electroencephalography (EEG) showed nonspecific alterations, but further assessment revealed a MYH3 gene variant associated with scoliosis, short stature, and distinct facial features.

Neuromuscular disturbances in adolescent idiopathic scoliosis observed from the anticipatory muscle activations in scapula stabilizers: a cross-sectional study.

Background: While it is well-stablished that scoliosis can lead to neuromuscular control disorders, the specific characteristics of these impairments remain unclear. This study aimed to explore the neuromuscular features of scapula stabilizers in adolescents with idiopathic scoliosis (AIS) through an analysis of anticipatory muscle activations (AMAs).

Methods: A cross-sectional observational study was conducted with 17 AIS and 19 age-matched healthy subjects.

Can Intra-Operative Cell Salvage Reduce the Rate of Allogeneic Transfusion in Pediatric Spinal Deformity Surgery?

Study Design: Retrospective cohort study.

Objectives: The objective of this study was to characterize the association between cell-salvage and allogeneic transfusion rate in pediatric patients undergoing posterior arthrodesis for scoliosis.

Methods: NSQIP Pediatric database years 2016-2022 was used.

Chest and spinal disease in patients with progressive neuromuscular disease.

The chest and spine deformity in neuromuscular disease (NMDz) can impact respiratory mechanics and pulmonary function by changing the orientation of the muscles and joints of the respiratory system and placing them in a mechanically unfavorable position. This increases mechanical load on weak respiratory muscles and eventually can cause respiratory failure. Therefore, chest and spine deformity in NMDz will both lead to increased respiratory "load" and decreased respiratory muscle "pump", an exceptionally bad combination.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.

The use of skin traction as an intraoperative adjunct for correction during pediatric neuromuscular scoliosis correction.

Purpose: Intraoperative traction can improve deformity correction during posterior spinal fusion (PSF). This is commonly done with invasive distal femoral or pelvic pins, or traction boots. The novel technique of intraoperative skin traction (ISkinT) avoids risks associated with intraoperative skeletal traction (ISkelT) or hyperlordosis with extended hip position.

Does a delay of surgery due to a multidisciplinary screening process result in neuromuscular scoliosis curve progression in complex Cerebral Palsy?

Purpose: While surgical intervention of scoliosis in cerebral palsy (CP) patients has shown notable improvements in quality of life, the high risk of post-operative complications in CP patients necessitates careful preoperative optimization. A preoperative multidisciplinary (Multi-D) pathway at our tertiary pediatric hospital in effect since 2014 led to a significant reduction in mortality at one year. However, such a strategy delays surgery, potentially increasing the risk of curve progression.

Limb-Girdle Type Congenital Myasthenic Syndrome Anticipated With Scoliosis: A Case Report.

Congenital myasthenic syndromes (CMS) comprise a group of inherited disorders that impair signal transduction as well as the structural integrity of the neuromuscular junction. Since there are several gene mutations associated with CMS, including the rare GFPT1 gene, the clinical presentation of this condition is quite variable. Importantly, patients with the same genotype can exhibit different clinical features.

Heterotopic Osteotomy for Intrathecal Baclofen Test Dose Administration in a Pediatric Patient With Spinal Fusion: A Technical Note.

Background And Importance: Intrathecal baclofen (ITB) pumps are used for the treatment of pediatric movement disorders that are rapidly progressive or do not respond to medical management. An ITB test dose is indicated in patients who have mixed tone, when the family remains unconvinced, or when insurance companies require it. Test doses are typically delivered by lumbar puncture; however, lumbar puncture in patients with heterotopic ossification of the lumbar vertebrae after a previous spinal fusion is not possible.

c.2011C>T is responsible for congenital scoliosis in a Chinese family.

Neuromuscular scoliosis can be caused by muscular or nervous system dysfunction resulting from genetic variants. Variation in may cause hypertrophic or dilated cardiomyopathy, skeletal myopathies, or a combination of both; however, scoliosis has rarely been reported. We analyzed a Chinese pedigree with two members suffering from scoliosis.

Vertebral Body Morphology in Neuromuscular Scoliosis with Spastic Quadriplegic Cerebral Palsy.

: The distorted vertebral body has been studied in scoliosis; however, there is little knowledge about the difference between neuromuscular and idiopathic scoliosis. This study aimed to investigate the vertebral body morphology in patients with spastic quadriplegic cerebral palsy and scoliosis (CP scoliosis) and compare them with those of apex- and Cobb angle-matched patients with adolescent idiopathic scoliosis (AIS). : Thirty-four patients with CP scoliosis and thirty-two patients with AIS were included.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.

Intra-operative neuromonitoring in paediatric spinal deformity surgery: a retrospective single-centre experience.

Introduction: Intra-operative neuromonitoring including somatosensory evoked potentials, motor evoked potentials, and electromyography, have replaced the Stagnara wake-up test to allow early detection of neurological change during paediatric spinal deformity surgery. It is important for surgeons to recognize alerts triggered by loss of these potentials and act accordingly to prevent iatrogenic neurological damage intra-operatively. This study was conducted to determine the sensitivity and specificity of neuromonitoring alerts in paediatric spinal deformity correction surgery.

Long-term results of single-stage posterior hemivertebra resection and short segment fusion using pedicle screws fixation in thoracolumbar congenital early-onset scoliosis: an 8.97-year average follow-up study.

Background: This study aims to evaluate the long-term outcomes of one-stage posterior hemivertebra resection and short segment fusion with pedicle screw fixation in children with thoracolumbar congenital early-onset scoliosis (TLCEOS). It specifically investigates the durability of spinal correction and the incidence of complications over an average follow-up of 8.97 years.

Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition.