Articles: chronic-progressive-external-ophthalmoplegia.
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Neuromuscul. Disord. · Feb 2003
Case ReportsRecessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. We previously reported missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma in two nuclear families compatible with autosomal recessive progressive external ophthalmoplegia. ⋯ This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Sensory neuropathy is the initial feature in Belgian compound heterozygote autosomal recessive progressive external ophthalmoplegia patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.
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Binocul Vis Strabismus Q · Jan 2001
Case ReportsCongenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.
Chronic Progressive External Ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so. ⋯ We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.
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Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time. ⋯ Triceps muscle biopsy showed small multiple collections of rod-like structures in > 50% of fibers. This patient presented with a clinical picture that did not primarily suggest nemaline myopathy. This case illustrates the heterogeneity of this disorder and the need for muscle biopsy to make an accurate diagnosis in patients with ptosis and progressive external ophthalmoparesis.