title: Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.
abstract: The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral centre for congenital muscular dystrophy (CMD). This retrospective review reports the diagnostic outcome of 214 UK patients referred to the centre for assessment of 'possible CMD' between 2001 and 2008 with a view to commenting on the variety of disorders seen and the relative frequency of CMD subtypes in this patient population. A genetic diagnosis was reached in 53 of 116 patients fulfilling a strict criteria for the diagnosis of CMD. Within this group the most common diagnoses were collagen VI related disorders (19%), dystroglycanopathy (12%) and merosin deficient congenital muscular dystrophy (10%). Among the patients referred as 'possible CMD' that did not meet our inclusion criteria, congenital myopathies and congenital myasthenic syndromes were the most common diagnoses. In this large study on CMD the diagnostic outcomes compared favourably with other CMD population studies, indicating the importance of an integrated clinical and pathological assessment of this group of patients.
authors.affiliation: Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, United Kingdom.
authors.forename: E M
authors.initials: EM
authors.lastname: Clement
authors.forename: L
authors.initials: L
authors.lastname: Feng
authors.forename: R
authors.initials: R
authors.lastname: Mein
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: S A
authors.initials: SA
authors.lastname: Robb
authors.forename: A Y
authors.initials: AY
authors.lastname: Manzur
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: C
authors.initials: C
authors.lastname: Godfrey
authors.forename: T
authors.initials: T
authors.lastname: Cullup
authors.forename: S
authors.initials: S
authors.lastname: Abbs
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003954:Diagnostic Services; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D006113:United Kingdom