HEREDITARY EXTERNAL OPHTHALMOPLEGIA

Congenital external ophthalmoplegia.

Chronic Progressive External Ophthalmoplegia

S U M M A R Y — Th i s s tudy quantif ies the m a i o r e lect ron m i c r o s c o p i c changes in l imb muscle b iops ies f r o m 31 out of 34 pat ients wi th the s y n d r o m e of ch ron ic p rogress ive external oph tha lmopleg ia . Pat ients w e r e d iv ided into three cl inical g r o u p s — A ) 10 sporad ic cases wi th musc l e weakness o n l y ; B ) 9 familial cases w i t h musc le we...

Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy.

AIMS To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber's hereditary optic neuropathy (LHON). METHODS Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460/ND1 LHON were...

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.

IMPORTANCE Orthostatic tremor (OT) is a high-frequency (13-18 Hz) leg tremor occurring in standing position. Orthostatic tremor has an unknown pathophysiologic mechanism. It is thought to be sporadic but siblings with OT from 3 unrelated families were reported. No mutations have been reported in OT. We describe a patient with OT carrying a C10orf2 TWINKLE mutation to highlight the possible asso...

Chronic progressive external ophthalmoplegia with inflammatory myopathy.

Chronic progressive external ophthalmoplegia is one of mitochondrial disorders, characterized by ptosis, limitation of eye movement, variably severe bulbar muscle weakness and proximal limb weakness. Chronic progressive external ophthalmoplegia complicated with acquired disease is extremely rare. We report a 44 years old male patient with more than 20 years of chronic progressive bilateral ptos...