Charlevoix-Saguenay
Charlevoix Saguenay

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Prevalence (%) of clinical parameters based on data from 1 references describing 8 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 % 16961075 2012-02-14
Dysarthria nervous 100 % 16961075 2012-02-14
Nystagmus nervous 100 % 16961075 2012-02-14
Babinski's sign nervous 100 % 16961075 2012-02-14
Cerebellar atrophy nervous 100 % 16961075 2012-02-14
Neuropathy nervous 100 % 16961075 2012-02-14
Hyperactive reflexes nervous 75 % 16961075 2012-02-14
Spasticity nervous 75 % 16961075 2012-02-14
Pes cavus skeletal 75 % 16961075 2012-02-14
Finger deformity skeletal 63 % 16961075 2012-02-14
Retinal myelinated fibers nervous 63 % 16961075 2012-02-14



List of references:


Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Yoshihisa Takiyama,



Neuropathology : official journal of the Japanese Society of Neuropathology - Aug 2006