title: [DIAGNOSTIC VARIATIONS OF X-LINKED MUSCULAR DYSTROPHY WITH CONTRACTURES].
abstract: Case report with review describes X-linked muscular dystrophy with contractures in 28 years old man and his cousin. The disease revealed itself in an early stage (age 5-10), the process was progressing with apparent tendons retraction and contraction, limited movement in the areas of the neck and back of spine, atrophy of shoulder and pelvic yard and back muscles. Intellect was intact. Cardyomyopathy was exhibited. CK was normal. EMG showed classic myopathic features. Muscle biopsy showed different caliber groups of muscle fibers, growth of endo-perimesial connective tissue. Clinical manifestations together with electrophysiological and histological data suggest consistency with Rotthauwe-Mortier-Bayer X-linked muscular dystrophy.
authors.affiliation: P. Sarajishvili Institute of Neurology; Iv. Javakhishvili Tbilisi State University, Georgia.
authors.forename: N
authors.initials: N
authors.lastname: Kvirkvelia
authors.forename: R
authors.initials: R
authors.lastname: Shakarishvili
authors.forename: D
authors.initials: D
authors.lastname: Gugutsidze
authors.affiliation: P. Sarajishvili Institute of Neurology; Iv. Javakhishvili Tbilisi State University, Georgia.
authors.forename: N
authors.initials: N
authors.lastname: Khizanishvili
mesh_terms: D000328:Adult; D017668:Age of Onset; D001284:Atrophy / Q000473:pathology; D001706:Biopsy; D003286:Contracture / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D004576:Electromyography; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*