Abstract
Classical Menkes disease is a neurodegenerative disorder caused by mutations in the copper-transporting ATPase ATP7A gene which, when untreated, is usually fatal in early childhood. A mild form of Menkes disease was originally reported in 1981 and clinical progress of the patient at 10 years described subsequently. The causative mutation is c.4085C>T in exon 21, causing an alanine to valine substitution in the highly conserved TM7 domain at the C-terminal end of the Menkes protein. Here we report his status at 34 years of age. Intellectual impairment is mild. Ataxia has nearly resolved but motor retardation, dysarthria and an extreme slow speech rate remain. In contrast to patients with the occipital horn syndrome, there have been no connective tissue complications of his mild Menkes disease. He has been under long-term copper therapy for more than 30 years and he continues to enjoy a good quality of life.
Competing interests: None declared
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Communicated by: Verena Peters
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Michel Tchan: Wrote the draft article. Guarantor.
Bridget Wilcken: Revised the article.
John Christodoulou: Revised the article.
All three authors have shared clinical care of this patient.
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Informed consent for publication of clinical information and photography was obtained from the patient and his mother.
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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg
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Tchan, M.C., Wilcken, B., Christodoulou, J. (2012). The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case. In: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports – Case and Research Reports, 2012/6. JIMD Reports, vol 9. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_183
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DOI: https://doi.org/10.1007/8904_2012_183
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