TK2-related mitochondrial DNA depletion syndrome, myopathic form
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TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).
Descrição
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).
The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia).
Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected.
As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Mitochondrial DNA depletion syndrome 2 (myopathic type)
MTDPS2
TK2-related mitochondrial DNA depletion myopathy
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Leitura adicional e referências
- TK2-related mitochondrial DNA depletion syndrome, myopathic form; MedlinePlus, National Library of Medicine.
- Behin A, Jardel C, Claeys KG, Fagart J, Louha M, Romero NB, Laforet P, Eymard B, Lombes A. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. Neurology. 2012 Feb 28;78(9):644-8. doi: 10.1212/WNL.0b013e318248df2b. Epub 2012 Feb 15.
- Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord. 2008 Jul;18(7):557-60. doi: 10.1016/j.nmd.2008.04.014. Epub 2008 May 27.
- Gotz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpaa-Heikkila O, Valanne L, Marjavaara S, Suomalainen A. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26.
- Lesko N, Naess K, Wibom R, Solaroli N, Nennesmo I, von Dobeln U, Karlsson A, Larsson NG. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. Neuromuscul Disord. 2010 Mar;20(3):198-203. doi: 10.1016/j.nmd.2009.11.013. Epub 2010 Jan 18.
- Marti R, Nascimento A, Colomer J, Lara MC, Lopez-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P, Pineda M. Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/PDR.0b013e3181e33bbe.
- Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol. 2006 Aug;63(8):1122-6. doi: 10.1001/archneur.63.8.1122.
- Paradas C, Gutierrez Rios P, Rivas E, Carbonell P, Hirano M, DiMauro S. TK2 mutation presenting as indolent myopathy. Neurology. 2013 Jan 29;80(5):504-6. doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9.
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