Central core disease
نویسندگان
چکیده
منابع مشابه
Central core disease
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pr...
متن کاملMyotubular/centronuclear myopathy and central core disease.
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This r...
متن کاملCentral core disease--a case report.
Central core disease is a rare congenital myopathy characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gast...
متن کاملEmergency anaesthesia in central core disease.
1 Koyama J, Aoyama T, Kusano Y, et al. Description and first clinical application of AirWay Scope for tracheal intubation. J Neurosurg Anesthesiol 2006; 18: 247–50 2 Koyama Y, Inagawa T, Miyashita T, et al. Comparison of the Airway Scope, gum elastic bougie and fibreoptic bronchoscope in simulated difficult tracheal intubation: a manikin study. Anaesthesia 2007; 62: 936–9 3 Sasano N, Yamauchi H...
متن کاملSingle fibre electromyography in central core disease.
Single fibre electromyography in the extensor digitorum communis muscle was studied in five patients with central core disease. The average number of muscle fibre action potentials belonging to the same motor unit was higher in patients than in healthy subjects of the same age. The increase in motor unit fibre density is consistent with increased terminal innervation ratio described in other pa...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2007
ISSN: 1750-1172
DOI: 10.1186/1750-1172-2-25