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Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation
Author(s) -
Sudarsky Lewis,
Plotkin George M.,
Logigian Eric L.,
Johns Donald R.
Publication year - 1999
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(199905)14:3<488::aid-mds1017>3.0.co;2-4
Subject(s) - heteroplasmy , dystonia , muscle biopsy , mitochondrial dna , mutation , point mutation , sensorineural hearing loss , ptosis , medicine , mitochondrial disease , genetics , external ophthalmoplegia , pathology , biology , hearing loss , biopsy , audiology , surgery , gene , psychiatry
A variety of neurologic phenotypes have been described in patients with mitochondrial disorders. We report a 32‐year‐old man in whom dystonia was the salient and presenting feature of a mitochondrial DNA mutation. He presented at age 23 with writer's cramp and progressed over 5 years to exhibit dystonia in facial muscles and lower limbs. He also has exercise intolerance, mild, bilateral ptosis, proximal muscle weakness, and sensorineural hearing loss. Molecular genetic analysis of blood, urine, and muscle biopsy demonstrated the presence of a heteroplasmic point mutation at nucleotide position 3243. The 3243 mtDNA mutation has pleomorphic manifestations, and dystonia should be added to the list of associated clinical features.