Objective To observe whether patients with Miyoshi-type dysferlinopathy demonstrate any distinct appearance in the back of the shoulders and upper back in a specific posture.
Design Case series.
Setting Neurology outpatient clinic of a north Indian tertiary care medical institute.
Patients Fifteen patients from 9 families (10 males and 5 females; age range, 16-42 years) who had Miyoshi myopathy with onset of calf and shin muscle wasting between the ages of 9 and 28 years and a myopathic pattern at electromyography, moderately high serum creatine kinase levels, and absence of dysferlin at immunohistochemical staining.
Interventions Patients were asked to raise their arms with shoulders abducted and elbows flexed to 90°. All were observed from behind for the morphological change in the bulk of different muscles of the upper back and shoulders. T1-weighted magnetic resonance imaging of the upper thorax and shoulder was performed in an oblique sagittal plane to confirm the clinical findings.
Main Outcome Measure Consistent pattern of muscle enlargement or wasting seen clinically and at magnetic resonance imaging that produces a particular diagnostic appearance.
Results A characteristic appearance was observed on the upper back and shoulders that could be described as calf heads on a trophy sign. The sign was clearly visible in 6 patients, whereas it was present in a subtle manner in another 4. Some but not all components of the sign were visible in the rest of the patients.
Conclusion The calf heads on a trophy sign may be useful in identifying most patients with Miyoshi-type dysferlinopathy.
