Sensory ataxic neuropathy, dysarthria and ophthalmoparesis
SANDO

Contact us
 
Return to database


Description from OMIM

SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) resulting from mitochondrial dysfunction and associated with mtDNA depletion in skeletal muscle and peripheral nerve tissue (Fadic et al., 1997). The phenotype varies widely, even within the same family, and can include myopathy, seizures, and hearing loss, but the common clinical feature appears to be sensory ataxia (review by Milone and Massie, 2010). Spinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches and seizures (Winterthun et al., 2005).



Prevalence of clinical parameters (%)







Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Seizures nervous 100 % 15824347 2011-10-19
Muscle weakness skeletal 100 % 14745080 2011-10-10
Ophthalmoplegia nervous 100 % 15824347 2011-10-14
Ataxia nervous 100 % 14745080 2011-10-09
Gait disturbances nervous 100 % 14745080 2011-10-09
Ptosis nervous 100 % 14745080 2011-10-10
Ophthalmoplegia nervous 100 % 14745080 2011-10-10
Myoclonus nervous 100 % 15824347 2011-10-09
Neuropathy nervous 100 % 14745080 2011-10-10
Ataxia nervous 100 % 15477547 2011-10-10
Ophthalmoplegia nervous 75 % 15477547 2011-10-13
Hearing loss nervous 50 % 14745080 2011-10-10
Neuropathy nervous 34 % 19752458 2011-10-10
Ataxia nervous 34 % 19752458 2011-10-10
Ophthalmoplegia nervous 34 % 19752458 2011-10-10



List of references:


Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
S Winterthun, G Ferrari, L He, R W Taylor, M Zeviani, D M Turnbull, B A Engelsen, G Moen, L A Bindoff,

To investigate three families and one sporadic case with a recessively inherited ataxic syndrome.

Neurology - Apr 2005



POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
M Mancuso, M Filosto, M Bellan, R Liguori, P Montagna, A Baruzzi, S DiMauro, V Carelli,

The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects.

Neurology - Jan 2004



POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
G Van Goethem, P Luoma, M Rantamäki, A Al Memar, S Kaakkola, P Hackman, R Krahe, A Löfgren, J J Martin, P De Jonghe, A Suomalainen, B Udd, C Van Broeckhoven,

To identify POLG mutations in patients with sensory ataxia and CNS features.

Neurology - Oct 2004



Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
Claudia Schulte, Matthis Synofzik, Thomas Gasser, Ludger Schöls,



Neurology - Sep 2009