21 YEAR OLD FEMALE WITH PROGRESSIVE WEAKNESS

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21 YEAR OLD FEMALE WITH PROGRESSIVE WEAKNESS

• Teaching NeuroImages
• Neurology
• Resident and Fellow Section

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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.
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B
A
C
Liew et al.
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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 TgtC, 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.