Jennifer K. Hall; Carsten Bonnemann; Grant T. Liu; Nocholas J. Volpe; Melissa Ko; Yvette Palmer; Steven L. Galetta
Affiliation
Philadelphia, Pennsylvania
Subject
Ophthalmoplegia; DNA Helicases; Mitochondrial Myopathies; Genetic Polymorphism; Ocular Motility Disorders; Exotropia; Ataxia; Mitochondrial Diseases; Point Mutation
History
A 46-year old female developed a nasal voice and upper extremity weakness at age 16. EMG and muscle biopsy showed evidence of myopathy. Her condition showed little progression until age 30 when she developed left sided hearing loss.
Pathology
Mutations of mitochondrial DNA
Disease/Diagnosis
Progressive external ophthalmoplegia syndrome with novel S1095R mutation in POLG1 strongly suspected to be pathogenic
Clinical
Exotropia; Ataxia
Presenting Symptom
Bilateral adduction deficits with weakness bilaterally in the lower face; Decreased hearing AS; Mild ataxia
Neuroimaging
N/A
Treatment
N/A
Date
2008-03
References
1. Horvath R, Hudson G, Gianfrancesco F et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;129:1674-84. 2. Naimi M, Bannwarth S, Procaccio V, et al. Molecular analysis of ANT1, TWINKLE, and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. European Journal of Human Genetics 2006; 14 917-22.
Language
eng
Format
video/mp4
Type
Image/MovingImage
Source
40th Annual Frank Walsh Society Meeting
Relation is Part of
NANOS Annual Meeting Frank B. Walsh Sessions; 2008