Key result
Intravenous immunoglobulin treatment resulted in significant improvement of both muscle weakness and dermatological symptoms in a patient with sporadic late onset nemaline myopathy.
Why the study?
Sporadic late onset nemaline myopathy is a rare progressive muscle disease, and manifestations aside from neuromuscular symptoms had not been described previously.
Does intravenous immunoglobulin treatment improve symptoms in a patient with sporadic late onset nemaline myopathy and concurrent dermatological symptoms?
Case Report (n=1)
No
Does intravenous immunoglobulin treatment improve symptoms in a patient with sporadic late onset nemaline myopathy and concurrent dermatological symptoms?
Answers are grounded in this paper and cite their sources.
Intravenous immunoglobulin treatment may be beneficial for patients with sporadic late onset nemaline myopathy presenting with concurrent dermatological symptoms.
BACKGROUND: Sporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods. The putative mechanism is considered immune-related. Other manifestations aside from neuromuscular symptoms have not been described previously. CASE PRESENTATION: We present a case with atypical sporadic late onset nemaline myopathy (SLONM) of a non-HIV, non-MGUS subtype, where skin manifestations preceded neuromuscular symptoms, and a residual thymus with the histology of thymic follicular hyperplasia was detected during the diagnostic workup. Thorough dermatological investigations could not explain the skin presentations. Muscle biopsy revealed variation in fiber diameter, ragged-red and COX-negative fibers associated with discrete fibrosis. Electron microscopy detected atrophic muscle fibres with disorganization of the myofibrils, nemaline rods and abnormal mitochondria. Single-fiber EMG suggested signs of a neuromuscular transmission defect, EMG showed signs of myopathy. Analyses of antibodies associated with myasthenia gravis were negative. The patient showed improvement after intravenous immunoglobulin treatment regarding both the skin and the muscle symptoms. CONCLUSIONS: Our case highlights the heterogeneity of SLONM with its varied spectrum of presentation. A unique combination of dermatological symptoms and SLONM could be seen with skin lesions as primary presenting symptoms. An association can be considered between the different manifestations, presumably based on immune etiology, where immunosuppressive therapy has been beneficial.
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Nandy et al. (2023) conducted a case report in Sporadic late onset nemaline myopathy (SLONM) (n=1). Intravenous immunoglobulin (IVIG) was evaluated on Clinical improvement of muscle and skin symptoms. Intravenous immunoglobulin treatment resulted in significant improvement of both muscle weakness and dermatological symptoms in a patient with sporadic late onset nemaline myopathy.
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