Author(s): Pradhan S
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Abstract 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 degrees . 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.
This article was published in Arch Neurol
and referenced in Journal of Genetic Syndromes & Gene Therapy