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Summary
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (SANDO)
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
607459
OMIM = Online Medalian Inheritance of Men
70595
15q26.1
rare
autosomal recessive
mutation in the nuclear-encoded DNA polymerase-gamma gene
symptoms
ataxia
cardiomyopathy
cardiomyopathy, dilated
cataract
cognitive impairment
depression
dysarthria
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
hyporeflexia
muscle weakness
myoclonus
myopathy
neuropathy
nystagmus
onset, adulthood
ophthalmoparesis
seizures
laboratory finding
L-Lactic acid increasedserum
Creatine kinase increasedserum
Literature
Schaenzer A,et al.Quantification of muscle pathology in infantile Pompe diseaseNeuromuscul Disord272141-1522017
Avula S,et al.Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathyEchocardiography344621-6242017
Burwinkel B,et al.Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiencyAm J Hum Genet7661034-10492005
Zhao Y,et al.Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.Int J Mol Med3761511-15202016
Tarnopolsky M,et al.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert PanelCan J Neurol Sci434472-4852016