Infantile onset spinocerebellar ataxia
IOSCA

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Prevalence (%) of clinical parameters based on data from 2 references describing 40 individuals







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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
Ataxia nervous 100 % 8133312 2012-01-12
Hypotonia nervous 100 % 8133312 2012-01-12
Athetosis nervous 100 % 8133312 2012-01-12
Areflexia nervous 100 % 8133312 2012-01-12
Neuropathy nervous 100 % 8133312 2012-01-12
Hearing loss nervous 100 % 8133312 2012-01-12
Headache nervous 100 % 19304794 2012-01-12
Ophthalmoplegia nervous 95 % 8133312 2012-01-12
Seizures nervous 86 % 19304794 2012-01-12
Cerebellar atrophy nervous 84 % 8133312 2012-01-12
Babinski's sign nervous 79 % 8133312 2012-01-12
Optic atrophy nervous 68 % 8133312 2012-01-12
Facial weakness nervous 42 % 8133312 2012-01-12
Psychiatric symptom nervous 38 % 19304794 2012-01-12



List of references:


Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
T Koskinen, P Santavuori, K Sainio, M Lappi, A K Kallio, H Pihko,



Journal of the neurological sciences - Jan 1994



Recessive twinkle mutations cause severe epileptic encephalopathy.
Tuula Lönnqvist, Anders Paetau, Leena Valanne, Helena Pihko,



Brain : a journal of neurology - Jun 2009