Current Pediatric Research

- Current Pediatric Research (2010) Volume 14, Issue 2

Case report on Ullrich Congenital Muscular Dystrophy-Type VI Collagen Defect

Congenital muscular dystrophy (CMD) is a heterogeneous group of conditions. Ullrich CMD is due to defect in extra cellular matrix protein- Collagen type VI. It is an autosomal recessive disorder caused by a mutation in 1 of the 3 collagen type VI genes (COL6A1, COL6A2, COL6A3). Clinical features include slow progressive muscle weakness, distal laxity (hand, foot, finger), contracture of proximal joints ,early respiratory failure, protruded calcaneum and may never achieve ability to walk. We report a four year old boy with the above features diagnosed to have Ullrich CMD. This case is being reported for its rarity and to highlight the importance of diagnosis of subtype of CMD

Author(s): Chandrika Rao, Mallikarjuna HB, Mohan Kumar N

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