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

21 YEAR OLD FEMALE WITH PROGRESSIVE WEAKNESS

Teaching NeuroImagesNeurology

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

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Liew et al.

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Liew et al.

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.