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Hereditary myopathies with early respiratory insufficiency in adults
Author(s) -
Naddaf Elie,
Milone Margherita
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25602
Subject(s) - medicine , lactic acidosis , myopathy , mitochondrial myopathy , mitochondrial encephalomyopathy , muscular dystrophy , cardiomyopathy , mitochondrial disease , myotonic dystrophy , pediatrics , pathology , heart failure , mutation , mitochondrial dna , biology , genetics , gene
: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. Methods : We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease‐causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded. Results : We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult‐onset Pompe disease, myofibrillar myopathy, multi‐minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified. Conclusion : We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care. Muscle Nerve 56 : 881–886, 2017