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STEM CELL TRANSPLANTATION IN A PATIENT WITH LATE-ONSET NEMALINE MYOPATHY AND GAMMOPATHY

Rod bodies accumulation is the hallmark of several genetically determined congenital myopathies, generally of neonatal or childhood onset.1 Adult forms are known as sporadic late-onset nemaline myopathies (SLONM). Since 1966, 71 patients with SLONM have been described.2 Among them, 11 were infected by HIV1,3 and 12 had monoclonal gammopathy,2,4 suggesting that the association of SLONM with HIV infection or gammopathy may not be fortuitous. Plasmacytic dyscrasia with monoclonal gammopathy of undetermined significance (MGUS) can be associated with severe neuromuscular disorders, as in POEMS syndrome or AL amyloidosis, and high-dose chemotherapy with autologous stem cell transplantation has shown some efficacy in both situations.5,6 Because of the severity and quick progression of the gammopathy-associated SLONM, we decided to propose autologous stem cell transplantation to the patient presented here.

### Case report.

In March 2003, a 63-year-old woman, with no family history of myopathy, presented with progressive proximal limb-girdle muscle weakness and myalgia. In February 2005, she was wheelchair-bound, could neither stand nor walk unaided, and was totally dependent for many daily life activities (table; video on the Neurology ® Web site at www.neurology.org). Weakness was particularly severe in the proximal and axial muscles. She could swallow and breathe normally, eye and tongue movements were …