Artikel
Congenital fibrosis of extraocular muscles type 1 (CFEOM1) with progression of ophthalmoplegia and ptosis
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Autoren
Veröffentlicht: | 22. September 2004 |
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Gliederung
Text
Objective
Congenital fibrosis of the extraocular muscles type 1 (CFEOM 1) is a developemental disorder characterized by a congenital non-progressive bilateral external oculomotoric nerve palsy with ptosis and autosomal-dominant inheritance due to mutations in the KIF21A gene, encoding a kinesin motor protein.
Results
Serial sections over 23 years in a 60-year old patient with the common C2860T mutation in the KIF21A gene revealed not only congenital, but additional further progressive bilateral external ophthalmoplegia and ptosis. Clinical examination and electromyographic examination of the extraocular muscles showed isolated involvement and aberrant innervation of residual oculomotoric nerve fibers. Additional abnormalities as pes cavus, a slight kyphoscoliosis, and neurogenic EMG pattern in 2 of 5 muscles might reflect a more widespread involvement of α-motoneurons due to the KIF21A mutation.
Conclusions
Progredient chronic external ophthalmoplegia might be caused by either a continuous disease progression due to the kinesin defect or the consequence of an overuse of the reduced number of oculomotoric brain stem α-motoneurons.