INFLAMMATORY MYOPATHIES: P.155Brachio-cervical myopathy as the clinical presentation of scleroderma. Case series

Abstract

Brachio-cervical weakness can be the presenting symptom of several neuromuscular disorders. It's more frequently associated to amyotrophic lateral sclerosis or myasthenia gravis, and there are very few reports about inflammatory myopathies. These reports link inflammatory myopathies to other autoimmune disorders. It's imperative to consider this entity because a correct diagnosis has important implications for treatment. We describe 6 patients (5 women) with brachio-cervical myopathy associated to Scleroderma. All of them began to have arm or neck weakness at an average age of 45.7 years-old (27-61). The time from the onset of symptoms to diagnosis varied from 6 months to 3 years. All of them had associated bulbar symptoms. They were later diagnosed with Scleroderma. 5 of them had ANA antibodies (one ACA-B, one SSA/Ro, two Th/To and one anti-Ku and anti-Mi2). Capillaroscopy showed an active scleroderma pattern in all patients. 5 had esophagus aperistalsis or dilation. 4 had associated lung disease. All of them had a normal echocardiography. Muscle biopsies showed unspecific myopathic changes along with increased expression of MHC class I and a variable degree of macrophage infiltration. Some biopsies showed other findings such as CD20, CD4 and CD8 infiltrates and neurogenic changes. All our patients were treated with immunosuppressant drugs. One patient died of respiratory failure after 20 months of intense therapy. The other 5 have shown partial response and stabilization of the disease. In our case series, in younger patients the disease progressed more slowly over several years and was initially misdiagnosed as a muscle dystrophy. Capillaroscopy was pathological in all cases, even those who didn't have Raynaud syndrome. Although the SSc-PM overlap syndrome has been strongly associated to myocardial disease, none of our patients had myocardiopathy. None of them presented PM-Scl antibodies either. Brachio-cervical weakness can be a presenting symptom of inflammatory myopathy associated to scleroderma. In cases of proximal upper limb weakness or dropped head we should look for signs of systemic involvement. Capillaroscopy is an efficient and useful tool for diagnosis. Patients with this phenotype might have distinctive characteristics such as myocardial sparing.