Adult-onset nemaline myopathy and monoclonal gammopathy.

Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy.

Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant.

disease. In amyloidosis there is a clear relationship between monoclonal gammopathy and AL deposits. In POEMS syndrome, the plasma cell dyscrasia has a pathogenetic role, but no clear relationship has been found between the gammopathy and the clinical manifestations, which rather appear to be due to high VEGF levels. However, both these entities improve when the plasma cell dyscrasia and the mo...

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

BACKGROUND Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. METHODS We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 ne...

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

OBJECTIVE Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) ...

Adult-onset nemaline myopathy presenting as respiratory failure.

Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory fun...