Hereditary myopathies with early respiratory insufficiency in adults.
BACKGROUND
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.


CONCLUSIONS
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.
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
Elie
E
Naddaf
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
Margherita
M
Milone
D000328:Adult; D000368:Aged; D015331:Cohort Studies; D064211:Connectin / Q000235:genetics*; D003402:Creatine Kinase / Q000378:metabolism; D004576:Electromyography; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D051140:Selenoproteins / Q000235:genetics*; D013616:Tachycardia, Sinus / Q000209:etiology
D064211:Connectin; D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins; C577285:TTN protein, human; D003402:Creatine Kinase
congenital myopathy; diaphragm weakness; early respiratory insufficiency; hereditary myopathy; neuromuscular respiratory failure