《sma-clinic trail》.pdfVIP

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3 Renske I. Wadman, MD ABSTRACT Alexander F.J.E. Objective: Spinal muscular atrophy (SMA) is pathologically characterized by degeneration of ante- Vrancken, MD, PhD rior horn cells. Recent observations in animal models of SMA and muscle tissue from patients with Leonard H. van den Berg, SMA suggest additional abnormalities in the development and maturation of the neuromuscular MD, PhD junction. We therefore evaluated neuromuscular junction function in SMA with repetitive nerve W. Ludo van der Pol, stimulation. MD, PhD Methods: In this case-control study, repetitive nerve stimulation was performed in 35 patients with SMA types 2, 3, and 4, 20 healthy controls, and 5 controls with motor neuron disease. Correspondence reprint Results: Pathologic decremental responses (.10%) during 3-Hz repetitive nerve stimulation were requests to Dr. van der Pol: observed in 17 of 35 patients (49%) with SMA types 2 and 3, but not in healthy controls or W.L.vanderPol@umcutrecht.nl controls with motor neuron disease. None of the patients or controls had an abnormal incremental response of .60%. The presence of an abnormal decremental response was not specific for the type of SMA, nor was it associated with compound muscle action potential amplitude, clinical scores, or disease duration. Two of 4 patients with SMA type 3 who tried pyridostigmine reported increased stamina. Conclusions: These data suggest dysfunction of the neuromuscular junction in patients with