Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia
نویسندگان
چکیده
منابع مشابه
Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.
BACKGROUND Progressive external ophthalmoplegia (PEO) is a mitochondrial myopathy of ocular muscles. Diagnostic investigation usually involves limb skeletal muscle biopsy and molecular genetic studies, although diagnostic yield tends to be low. The purpose of this study was to evaluate the diagnostic yield obtained by analysis of levator palpebrae (LP) muscle tissue. METHODS This is a clinico...
متن کاملChronic 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...
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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...
متن کاملSurgical anatomy of the levator palpebrae insertion.
THE text-book description of the anatomy of the upper eyelid with particular reference to the septum orbitale (palpebral fascia) and especially the insertion of the levator muscle is unnecessarily vague or complicated from the surgical point of view. Thus the septum orbitale is described by some authors as arising from the orbital margin and ending where it blends with the aponeurosis of the le...
متن کاملChronic 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...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2012
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100014062