title: Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
abstract: The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a single centre over a 5 year period. Of the 54 patients where muscle biopsy was available, 29 (54%) had a core myopathy (central core disease, multi-minicore disease), 9 (17%) had nemaline myopathy, 7 (13%) had myotubular/centronuclear myopathy, 2 (4%) had congenital fibre type disproportion, 6 (11%) had isolated type 1 predominance and 1 (2%) had a mixed core-rod myopathy. Of the 44 patients with a genetic diagnosis, RYR1 was mutated in 26 (59%), ACTA1 in 7 (16%), SEPN1 in 7 (16%), MTM1 in 2 (5%), NEB in 1 (2%) and TPM3 in 1 (2%). Clinically, 77% of patients older than 18 months could walk independently. 35% of all patients required ventilatory support and/or enteral feeding. Clinical course was stable or improved in 57/66 (86%) patients, whilst 4 (6%) got worse and 5 (8%) died. These findings indicate that core myopathies are the most common form of congenital myopathies and that more than half can be attributed to RYR1 mutations. The underlying genetic defect remains to be identified in 1/3 of congenital myopathies cases.
authors: Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children Foundation Trust, London, UK.
authors: L
authors: L
authors: Maggi
authors: M
authors: M
authors: Scoto
authors: S
authors: S
authors: Cirak
authors: S A
authors: SA
authors: Robb
authors: A
authors: A
authors: Klein
authors: S
authors: S
authors: Lillis
authors: T
authors: T
authors: Cullup
authors: L
authors: L
authors: Feng
authors: A Y
authors: AY
authors: Manzur
authors: C A
authors: CA
authors: Sewry
authors: S
authors: S
authors: Abbs
authors: H
authors: H
authors: Jungbluth
authors: F
authors: F
authors: Muntoni
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D006113:United Kingdom