Abstract
Sporadic late onset nemaline myopathy (SLONM) is a rare acquired form of myopathy. The disease progression is fast and the prognosis is poor when associated with monoclonal gammopathy of undetermined significance (MGUS), which happens in half of the cases. The pathogenetic link with MGUS has not been elucidated at present. We report the case of a 38-year-old female patient, who presented with progressive proximal limb girdle and axial muscle weakness, atrophy of limb girdle muscles, myalgia and respiratory weakness due to SLONM with MGUS. This patient is the ninth case described who, except one, responded favourably to autologous stem cell transplantation. We highlight the importance of an early diagnosis of this rapidly progressive, often fatal, acquired myopathy, since it can be treated.
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