21 YEAR OLD FEMALE WITH PROGRESSIVE WEAKNESS Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

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21 YEAR OLD FEMALE WITH PROGRESSIVE WEAKNESS Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology

VIGNETTE 21 year-old female who presented in childhood with: –Progressive limb girdle weakness –Elbow contractures –Hyperlaxity of distal joints On examination, she had the following signs: –Keloid formation after ear piercing –Follicular hyperkeratosis of the arm –Flexion contractures of the fingers on wrist extension Liew et al.

BA C

Characteristic phenotype of Ullrich Congenital Muscular Dystrophy Signs were consistent with the diagnosis of Ullrich congenital muscular dystrophy Genetic testing revealed a homozygous mutation c.2329 T>C, p.Cys777Arg in the COL6A2 gene, confirming the diagnosis. Collagen type VI-related disorders represent a spectrum of overlapping phenotypes: Bethlem myopathy at the milder end, and Ullrich congenital muscular dystrophy at the severe end. Recognition of typical clinical features can aid in the diagnosis and help to shorten a potentially lengthy diagnostic workup. Liew et al.