SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (SANDO)

Question 1

What is  SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (SANDO)?

Accepted Answer

rare
autosomal recessive
mutation in the nuclear-encoded DNA polymerase-gamma gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Neuropathie, sensorisch-ataktische - Dysarthrie - Ophthalmoplegie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607459

Question 4

Which enzymes are involved?

Accepted Answer

DNA polymerase subunit gamma-1

Disease	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (SANDO)
Synonym	SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
OMIM	607459 OMIM = Online Mendelian Inheritance of Men
Orphanet	70595
Protein (UniProt)	DNA polymerase subunit gamma-1
Gene locus	15q26.1
ICD	G31.81
Summary	rare autosomal recessive mutation in the nuclear-encoded DNA polymerase-gamma gene
Laboratory findings	Creatine kinase inc (serum) L-Lactic acid inc (plasma)
Symptoms	ataxia cardiomyopathy cardiomyopathy, dilated cataract cognitive impairment depression dysarthria headache (severe, recurrent or occipital, migraine) hearing defect, deafness hyporeflexia lactic acidosis muscle weakness myoclonus myopathy neuropathy nystagmus onset, adulthood ophthalmoparesis seizures