KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
Por:
Natera-de Benito D, Nascimento-Osorio A, Abicht A, Ortez-Gonzalez CI, Jou-Munoz C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J and Lochmüller H
Publicada:
1 mar 2016
Ahead of Print:
11 ene 2016
Resumen:
Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with congenital myopathies (CM). Mutations in KLHL40 are among the most common causes of severe forms of nemaline myopathy. Clinical features of affected individuals include fetal akinesia or hypokinesia, respiratory failure, and swallowing difficulties at birth. Muscle weakness is usually severe and nearly half of the individuals have no spontaneous antigravity movement. The average age of death has been reported to be 5 months in a recent case series. Herein we present a case of a patient with a nemaline myopathy due to KLHL40 mutations (c.604delG, p.Ala202Argfs*56 and c.1513G > C, p.Ala505Pro) with an impressive and prolonged beneficial response to treatment with high-dose pyridostigmine. Myasthenic features or response to ACEI have not previously been reported as a characteristic of nemaline myopathy or KLHL40-related myopathy.
Filiaciones:
Natera-de Benito D:
Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain.
Nascimento-Osorio A:
Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain
Abicht A:
Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336, Munich, Germany
Medical Genetics Center, Munich, Germany
Ortez-Gonzalez CI:
Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain
Jou-Munoz C:
Pathology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Müller JS:
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
Evangelista T:
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
Töpf A:
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
Thompson R:
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
Jimenez-Mallebrera C:
Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain
Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Colomer J:
Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain
Lochmüller H:
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
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