VMA21-X-linked myopathy in Peru: characterization of three families

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-02-08 DOI:10.1016/j.nmd.2025.105311

Peggy Martínez-Esteban , Milagros Sotelo-Muñoz , Gianmarco Severa , Luis Cortez-Salazar , Denise Cassandrini , Jon Andoni Urtizberea , Claudia Castiglioni , Edoardo Malfatti

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引用次数: 0

Abstract

VMA21-X-Linked related myopathy is a rare neuromuscular disease characterized by a wide phenotypic spectrum ranging from neonatal forms with severe muscular weakness and respiratory failure, to mild childhood or adult-onset forms with slowly progressive muscular weakness and variably elevated serum creatine kinases. This condition is also called X-linked myopathy with excessive autophagy (XMEA) due to the presence of autophagic vacuoles with sarcolemmal proteins. Here we describe the clinical, muscle imaging, and genetic findings of six VMA21-X-Linked related myopathy patients belonging to three unrelated Peruvian families. Lower limb proximal muscle weakness and extraocular muscles involvement leading to upward ophtalmoparesis are the main clinical features in our cohort. Lower limb muscle MRI showed a typical pattern with major involvement of antero-medial compartment of thigh, and relative sparing of rectus femoris, gracilis, adductor longus. This is the first report of the VMA21-X-Linked related myopathy in Peru.

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秘鲁vma21 - x连锁肌病：三个家族的特征

vma21 - x相关肌病是一种罕见的神经肌肉疾病，其特征是广泛的表型谱，从新生儿形式的严重肌肉无力和呼吸衰竭，到轻度的儿童或成人发病形式的缓慢进行性肌肉无力和血清肌酸激酶的不同升高。这种情况也被称为x连锁肌病伴过度自噬（XMEA），因为存在含有肌上皮蛋白的自噬空泡。在这里，我们描述了6名vma21 - x连锁相关肌病患者的临床、肌肉成像和遗传发现，这些患者属于三个不相关的秘鲁家庭。下肢近端肌无力和眼外肌受累导致向上斜视是本队列患者的主要临床特征。下肢肌肉MRI表现典型，主要累及大腿前内侧隔室，股直肌、股薄肌、长内收肌相对完好。这是秘鲁首次报道与vma21 - x相关的肌病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.