Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.
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DOI：
10.3390/genes14081587
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发表时间：
2023-08-05
期刊：
影响因子：
3.5
通讯作者：
Lozano, Reymundo
中科院分区：
文献类型：
--
作者：
Lewis, Sivan;Woroch, Amy;Hatch, Mary Kate;Lozano, Reymundo
肢带性肌营养不良症是一组典型表现为进行性近端肌无力的遗传性疾病。受影响的个体表现为肩部和臀部肌肉萎缩和无力，在某些情况下，还报告了智力残疾或发育迟缓。四肢带状肌营养不良-3是由SGCA基因双等位基因变异引起的隐性疾病。同样，症状包括近端肌肉无力、CPK升高、小腿肌肉假性肥大和活动能力问题。心脏症状和呼吸功能不全也是常见的症状。本病例报告详细介绍了一名肌肉无力、CK升高和神经发育障碍的3岁男性，其中发现c.229C>T （p.a g77cys）纯合错义变异与四肢带状肌营养不良-3相关。本报告显示SGCA c.229C>T与其他肌营养不良症患者的神经发育障碍之间存在关联。
Limb-girdle muscular dystrophies are a group of genetic disorders classically manifesting with progressive proximal muscle weakness. Affected individuals present with atrophy and weakness of the muscles of the shoulders and hips, and in some cases, intellectual disability or developmental delay has also been reported. Limb-girdle muscular dystrophy-3 is a recessive disorder caused by biallelic variants in the SGCA gene. Similarly, symptoms include proximal muscle weakness, elevated CPK, calf muscle pseudohypertrophy, and mobility issues. Cardiac symptoms and respiratory insufficiency are also common symptoms. This case report details a 3-year-old male with muscular weakness, elevated CK, and a neurodevelopmental disorder in whom a homozygous missense variant in c.229C>T (p.Arg77Cys) associated with limb-girdle muscular dystrophy-3 was found. This report shows the association between SGCA c.229C>T and neurodevelopmental disorders as observed in other muscular dystrophies.
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