DIAGNOSTIC VARIATIONS OF X-LINKED MUSCULAR DYSTROPHY WITH CONTRACTURES

DIAGNOSTIC VARIATIONS OF X-LINKED MUSCULAR DYSTROPHY WITH CONTRACTURES

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 ba...

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Veröffentlicht in:Georgian medical news 2015-07 (244-245), p.40-44
Hauptverfasser: Kvirkvelia, N, Shakarishvili, R, Gugutsidze, D, Khizanishvili, N
Format: Artikel
Sprache:rus
Schlagworte:
Adult
Age of Onset
Atrophy - pathology
Biopsy
Contracture - diagnosis
Contracture - genetics
Contracture - pathology
Electromyography
Humans
Male
Muscles - pathology
Muscular Dystrophies - diagnosis
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
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Zusammenfassung: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.
ISSN:1512-0112