Collagen type VI-related myopathy

A 15-year-old Brazilian boy presented with slowly progressive infancy-onset global amyotrophy and limb-girdle pattern of weakness. His perinatal history and prior motor milestones were normal, and there was no relevant family history. On examination, he had a scoliosis, multiple joint contractures with distal hypermobility, follicular hyperkeratosis and keloid scar formation (figure 1). Figure 1 Examination findings in collagen type VI-related myopathies. (A) Marfanoid habitus and marked proximal and distal upper limb muscle atrophy with multiple …