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Sensory ataxic neuropathy, dysarthria and ophthalmoparesis

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We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

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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%)
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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

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