Adult mitochondrial DNA depletion syndrome with mild manifestations
Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature a...
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| Format: | Article |
| Language: | English |
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MDPI AG
2013-06-01
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| Series: | Neurology International |
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| Online Access: | http://www.pagepress.org/journals/index.php/ni/article/view/4758 |
| _version_ | 1797717171866959872 |
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| author | Josef Finsterer Gabor G. Kovacs Uwe Ahting |
| author_facet | Josef Finsterer Gabor G. Kovacs Uwe Ahting |
| author_sort | Josef Finsterer |
| collection | DOAJ |
| description | Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were non-informative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Real-time polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered. |
| first_indexed | 2024-03-12T08:32:28Z |
| format | Article |
| id | doaj.art-12e673226b4146d8aeb501774b6f456b |
| institution | Directory Open Access Journal |
| issn | 2035-8385 2035-8377 |
| language | English |
| last_indexed | 2024-03-12T08:32:28Z |
| publishDate | 2013-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Neurology International |
| spelling | doaj.art-12e673226b4146d8aeb501774b6f456b2023-09-02T17:29:27ZengMDPI AGNeurology International2035-83852035-83772013-06-0152e9e910.4081/ni.2013.e92514Adult mitochondrial DNA depletion syndrome with mild manifestationsJosef Finsterer0Gabor G. Kovacs1Uwe Ahting2Krankenanstalt Rudolfstiftung, ViennaInstitute of Neurology, Medical University of ViennaInstitute of Clinical Chemistry, MunichMitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were non-informative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Real-time polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered.http://www.pagepress.org/journals/index.php/ni/article/view/4758depletion syndrome, mitochondrial DNA, genetics, fatigue, polysomnia, exercise intolerance |
| spellingShingle | Josef Finsterer Gabor G. Kovacs Uwe Ahting Adult mitochondrial DNA depletion syndrome with mild manifestations Neurology International depletion syndrome, mitochondrial DNA, genetics, fatigue, polysomnia, exercise intolerance |
| title | Adult mitochondrial DNA depletion syndrome with mild manifestations |
| title_full | Adult mitochondrial DNA depletion syndrome with mild manifestations |
| title_fullStr | Adult mitochondrial DNA depletion syndrome with mild manifestations |
| title_full_unstemmed | Adult mitochondrial DNA depletion syndrome with mild manifestations |
| title_short | Adult mitochondrial DNA depletion syndrome with mild manifestations |
| title_sort | adult mitochondrial dna depletion syndrome with mild manifestations |
| topic | depletion syndrome, mitochondrial DNA, genetics, fatigue, polysomnia, exercise intolerance |
| url | http://www.pagepress.org/journals/index.php/ni/article/view/4758 |
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