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HISTORY, PHYSICAL EXAMINATION AND LABORATORY ANALYSES
Publication year - 1964
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1964.tb04643.x
Subject(s) - medicine , kyphoscoliosis , electroneuronography , ataxia , physical examination , diabetes mellitus , urinary system , supine position , pediatrics , surgery , endocrinology , scoliosis , electrodiagnosis , psychiatry
Summary The neurological syndrome in the present series is found to be in good agreement with that described in classical Friedreich's ataxia. 1. Sense impairment is, however, more common than in some other series, and electroneurography discloses disturbed function of both motor and sensory nerves. 2. The kyphoscoliosis is graded. Minor spinal anomalies are detected at roentgenological examination in some cases. 3. Diabetes mellitus with an average age at onset of 22 years is present in 11 of the 56 patients. Abnormal glucose tolerance is demonstrated in an additional 3 cases. 4. Serum transaminases are normal in the 29 cases in which they are determined. 5. No increase in the urinary excretion of catechol amines is recorded.