Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset.

Abstract

We herein present 10 patients with the childhood onset form of centronuclear myopathy. All patients underwent a clinical and neurologic examination, and EMG/NVC. A series of ancillary examinations, consisting of muscle enzymes, EEG, EKG, echocardiogram, pulmonary function tests and head CT scan was done in most. The mean age was 16.3 years (3-25). Seven were female. There was no family history in seven and in two it was suggestive of an autosomal recessive inheritance. One patient was adopted and no history was available. Frequent gestational and neonatal abnormalities were present, namely poor fetal movements, maternal polyhydramnios, perinatal hypoxia, hypotonia at birth, and weak crying and feeding. In seven patients there was delayed motor milestones. In most patients the motor involvement was stable or slowly progressive. Upon examination the facies were myopathic and there was a global skeletal muscle involvement in all patients, with muscular hypotonia, atrophy, and areflexia. Characteristically, patients presented with ophthalmoparesis, and weakness of masticatory and facial muscles. We frequently found osteoskeletal abnormalities, namely kyphoscoliosis, tendon retractions and high-arched palate. A restrictive pulmonary function pattern was found in five patients, but only one had a cor pulmonale. CK was abnormally high in one patient, and normal in all others. EMG/NVC disclosed a myopathic pattern in nine; in three there was a mixed neurogenic picture; and in one we found myotonic discharges. A long follow-up (median 8.1 years) showed that only the patient with cor pulmonale had an unfavorable prognosis.