title: Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool.
abstract: Dystrophinopathies are diagnosed by genetic studies and muscle biopsy. Most centers have multiplex polymerase chain reaction facilities diagnosing 65% to 70% of dystrophinopathy cases. Muscle biopsy is a time-consuming, invasive procedure whereas skin biopsy is a simple procedure done under local anesthesia. The current study evaluated the diagnostic accuracy of skin biopsy in dystrophinopathy. Overall, 119 confirmed cases of muscular dystrophy (111 males and 8 females) were included in the final analysis, of which 100 (all males) were dystrophinopathy. Skin biopsy diagnosed dystrophinopathy in suspected muscular dystrophy patients with a sensitivity of 98% (92.3%-99.7%), specificity of 99% (93.7%-99.9%), positive predictive value of 94.7% (71.9%-99.7%), and negative predictive value of 90% (66.9%-98.2%). Skin biopsy can be used for screening dystrophinopathy in muscular dystrophy patients (high sensitivity and positive predictive value). It being a simple and minimally invasive procedure, histopathologic and molecular markers of disease progression and response to novel treatment options can be assessed serially.
authors.affiliation: 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Biswaroop
authors.initials: B
authors.lastname: Chakrabarty
authors.forename: M C
authors.initials: MC
authors.lastname: Sharma
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: R M
authors.initials: RM
authors.lastname: Pandey
authors.forename: Chitra
authors.initials: C
authors.lastname: Sarkar
mesh_terms: D000293:Adolescent; D001706:Biopsy / Q000379:methods*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D017063:Outcome Assessment, Health Care; D012867:Skin / Q000473:pathology*
keywords: Becker muscular dystrophy; Duchenne; dystrophinopathy; gene deletion; gold standard; muscle biopsy; skin biopsy