Muscle MRI in Bethlem myopathy.

To cite: Morrow JM, Pitceathly RDS, Quinlivan RM, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013008596 DESCRIPTION A 44-year-old man presented with progressive limb girdle weakness from 10 years of age. The inheritance pattern was autosomal dominant; two siblings, his mother and maternal grandfather were similarly affected. On examination there was an exaggerated lumbar lordosis, wasting of proximal limb musculature, and contractures at elbows, wrists and finger flexors. There was moderate symmetrical proximal upper and lower limb weakness without facial weakness or cardiorespiratory involvement. Previous investigations included electromyography which was myopathic, creatine kinase 2–4× normal and dystrophic muscle biopsy but no definitive diagnosis had been made. The differential diagnosis is of a collagen VI myopathy (Bethlem), laminopathy or limb girdle muscular dystrophy. This differential diagnosis can be narrowed with lower limb muscle MRI which was performed. The pattern (figure 1) was typical of Bethlem myopathy. The muscle biopsy was sent for further analysis which showed marked reduction of collagen VI at the basal lamina of most fibres. Subsequent genetic studies identified a heterozygous missense mutation in COL6A2. Bethlem myopathy is the mild end of the collagen-VI-related myopathy spectrum. Although symptoms start in childhood, ambulation is typically maintained into adulthood. Contractures and mildly elevated creatine kinase are also typical. Bethlem myopathy has a highly specific pattern of muscle involvement on imaging with 90% sensitivity. 3 The peripheral involvement of the vasti muscles and anterocentral involvement of rectus femoris is particularly striking and once seen easily recognised subsequently, facilitating definitive genetic diagnosis.