CENTRONUCLEAR MYOPATHY - CLINICAL ASPECTS OF 10 BRAZILIAN PATIENTS WITH CHILDHOOD-ONSET

We herein present 10 patients with the childhood onset form of centron uclear myopathy. All patients underwent a.clinical and neurologic exam ination, 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 neonat al abnormalities were present, namely poor fetal movements, maternal p olyhydramnios, 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 skel etal muscle involvement in all patients, with muscular hypotonia, atro phy, and areflexia. Characteristically, patients presented with ophtha lmoparesis, and weakness of masticatory and facial muscles. We frequen tly found osteoskeletal abnormalities, namely kyphoscoliosis, tendon r etractions and high-arched palate. A restrictive pulmonary function pa ttern 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 neu rogenic picture: and in one we found myotonic discharges. A long follo w-up (median 8.1 years) showed that only the patient with cor pulmonal e had an unfavorable prognosis. (C) 1998 Elsevier Science B.V.