ALLMedicine™ Chronic Progressive External Ophthalmoplegia Center

Mar 6th, 2023 - Practice Essentials In patients who present with blephparoptosis and extraocular movement disorders, the clinican must be attentive in there assessment to include in the differential diagnsis a mitochondrial disorder such as Chronic Progressive Ex...

Mar 6th, 2023 - Practice Essentials In patients who present with blephparoptosis and extraocular movement disorders, the clinican must be attentive in there assessment to include in the differential diagnsis a mitochondrial disorder such as Chronic Progressive Ex...

Mar 6th, 2023 - Practice Essentials In patients who present with blephparoptosis and extraocular movement disorders, the clinican must be attentive in there assessment to include in the differential diagnsis a mitochondrial disorder such as Chronic Progressive Ex...

Feb 9th, 2023 - Myasthenia gravis often presents a diagnostic challenge and may be misdiagnosed, particularly in seronegative disease with active symptoms. We retrospectively evaluated 61 patients following the introduction of single fibre electromyography at our...

Feb 3rd, 2023 - Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion syndrome that is characterized by the triad of onset commonly before age twenty, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here we present a case o...

Apr 14th, 2016 - The lack of energy and fatigue seen in patients with mitochondrial diseases have been assumed to be caused by an energy defect because of a genetic defect in the mitochondrial DNA. The investigators have analyzed a few MRI scans of muscles from pa...

Apr 15th, 2014 - Patients and clinical features. The study will be carried out at National Taiwan University hospital, a tertiary medical center in Taipei. The Medical Genetics Department at National Taiwan University Hospital receives referral and conducts geneti...

Aug 8th, 2016 - Case Diagnosis The correct answer is brainstem mass. A brainstem mass that involves the midbrain (more commonly the dorsal midbrain) may cause a symmetric limitation in upgaze with convergence retraction because of co-firing of the medial and late...

Dec 27th, 2011 - Clinical Presentation An 8-year-old girl was brought to the eye clinic by her mother with a chief complaint of photophobia in both eyes for the past 5 years. The patient's mother expressed concern for the girl's droopy eyelids and proclivity for a...