Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. Disease data Classification Disease Synonyms Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency Zespół mnogich delecji mtDNA z powodu deficytu DGUOK o początku w wieku dorosłym ORPHA code 329314 OMIM code 617070 ICD10 code G71.3 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl