Congenital muscular torticollis is due to fibrosis of one or both the heads of sternocleidomastoid muscle. This may also involve the platysma, scalene muscles, and the carotid sheath and may be associated with cervical scoliosis. Conventional surgical procedures leave visible scars. Ramirez, who used the posterior part of the traditional face-lift incision, made perhaps the first attempt at concealing scars. Burstein et al. reported a large series of subcutaneous endoscopic release of torticollis through a hairline approach. Sasaki described an endoscopic two-incision, posterior auricular fold and hairline approach. A technique of transaxillary subcutaneous endoscopy for the release of the sternocleidomastoid muscle in congenital muscular torticollis is described here. This procedure provides direct access to the fibrous bands, enables release without risk of damage to the spinal accessory nerve, external jugular vein, or greater auricular nerve, and leaves no visible neck scars. Two cases of congenital muscular torticollis presenting in adulthood were managed successfully by this technique. The fibrotic part of sternocleidomastoid muscle was released and the normal range of head motion was restored. There were no surgical complications encountered and the patients achieved complete pain free range of movement in six weeks. This technique provides direct and quick access, perpendicular to the line of the fibrotic bands, avoids injury to neurovascular structures and does not leave visible neck scars.
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http://dx.doi.org/10.1016/j.bjps.2005.12.038 | DOI Listing |
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
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 PDFJ Neurol
January 2025
Department of Neurology and Neurosciences, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain.
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
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