Background: Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders. There is a great genetic heterogeneity as well as clinical variability among the disease.
Case Presentation: Here, we present a case of nemaline myopathy in a young woman who was newly diagnosed with systemic lupus erythematosus (SLE) and Sjögren's overlap syndrome complicated by macrophage activation syndrome (MAS). She had no personal or family history of myopathy and was reporting progressive thigh weakness. A muscle biopsy revealed type 1 myofiber predominance with granular material in atrophic myocytes consistent with nemaline myopathy. Her symptoms markedly improved with immunotherapy for her SLE and MAS supporting the diagnosis of sporadic late-onset nemaline myopathy (SLONM) associated with her autoimmune disease.
Conclusions: SLONM is a type of nemaline myopathy that presents in adults and can occasionally be associated with autoimmune disease. In these cases, treatment of the underlying disorder with immunosuppression appears to improve symptoms of myopathy.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922735 | PMC |
| http://dx.doi.org/10.1186/s41927-022-00246-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Biallelic pathogenic variants in the nebulin ( ) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in . Previously, a mouse model of was developed; however, it presented an uncharacteristically severe phenotype with a near complete reduction in transcript expression that is not observed in exon 55 patients.
View Article and Find Full Text PDFSporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case.
Neurol India
November 2024
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Sporadic late-onset nemaline rod myopathy is a rare, acquired, sub-acute, adult-onset myopathy characterized by proximal muscle weakness and nemaline rods in the myofibers. In contrast to its congenital form, the prevalence in adult population is comparatively rare. Herein, we report a case of 60-year-old male who presented with insidious onset proximal muscle weakness with myopathic pattern on electromyography.
View Article and Find Full Text PDF[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Fujian Children's Hospital (Shanghai Children's Medical Center Fujian Hospital), Fuzhou, Fujian 350011, China.
Article Synopsis
- - The study aimed to investigate the genetic cause of Nemaline myopathy in a 2-month-old girl who presented with symptoms like persistent phlegm and muscle tone reduction.
- - Whole exome sequencing revealed that the child carried two harmful variants of the NEB gene, inherited from her asymptomatic parents, confirming a diagnosis of rod-like myopathy.
- - The findings enhance understanding of the child's condition and provide important information for her family's genetic counseling and reproductive choices.
Nemaline Myopathy Type 6 Caused by Variants in the Gene: A Cross-Sectional Study of 24 Patients.
Neurol Genet
December 2024
From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.
Article Synopsis
- The study assesses 24 patients with Nemaline myopathy type 6 (NEM6) in the Netherlands, focusing on detailed clinical characteristics and symptom reporting.
- Key findings include reported symptoms of muscle weakness, slow movements, and difficulties with running, along with significantly reduced health-related quality of life and increased fatigue.
- The research also highlights issues with balance and falls, as well as a slower muscle relaxation rate compared to normal standards.
My second life with mechanical ventilation: A golden anniversary.
Neuromuscul Disord
November 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!