/progressive external ophthalmoplegia with mitochondrial DNA deletions

/progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

Rare Disease

MONDO:0014899

Also Known As

PEOB4adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyadult-onset multiple mtDNA deletion syndrome due to DGUOK deficiencyprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4progressive external ophthalmoplegia, autosomal recessive 4

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.