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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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.