Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA.
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Curr Neurol Neurosci Rep. 2023 Nov;23(11):777-784. doi: 10.1007/s11910-023-01311-0. Epub 2023 Oct 19.
Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. The pathological hallmark of SLONM is the accumulation of nemaline rods in muscle fibers. We review here current knowledge about its presentation, pathophysiology, and management.
SLONM usually manifests with subacutely progressive proximal and axial weakness, but it can also present with chronic progressive weakness mimicking muscular dystrophy. The pathophysiology of the disease remains poorly understood, with evidence pointing to both autoimmune mechanisms and hematological neoplasia. Recent studies have identified histological, proteomic, and transcriptomic alterations that shed light on disease mechanisms and distinguish SLONM from inherited nemaline myopathies. A majority of SLONM patients respond to intravenous immunoglobulins, chemotherapy, or hematopoietic stem cell transplant. SLONM is a treatable myopathy, although its underlying etiology and pathomechanisms remain unclear. A high degree of suspicion should be maintained for this disease to reduce diagnostic delay and treatment in SLONM and facilitate its distinction from inherited nemaline myopathies.
散发型迟发性先天性肌病（SLONM）是一种罕见的成人起病、获得性肌肉疾病，可伴有单克隆丙种球蛋白病或 HIV 感染。SLONM 的病理学特征是肌纤维中出现杆状畸形。本文综述了其临床表现、病理生理学和治疗方法的最新进展。
SLONM 通常表现为亚急性进行性近端和轴性无力，但也可表现为类似于肌营养不良的慢性进行性无力。该疾病的病理生理学仍知之甚少，有证据表明存在自身免疫机制和血液系统肿瘤。最近的研究确定了组织学、蛋白质组学和转录组学的改变，这些改变揭示了疾病的机制，并将 SLONM 与遗传性杆状体肌病区分开来。大多数 SLONM 患者对静脉注射免疫球蛋白、化疗或造血干细胞移植有反应。尽管 SLONM 的潜在病因和发病机制仍不清楚，但它是一种可治疗的肌病。应高度怀疑该病，以减少诊断延误和治疗，并有助于将其与遗传性杆状体肌病区分开来。
