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Voiding Dysfunction in Spinocerebellar Ataxia Type 31
Megumi Sugiyama1, Ryuji Sakakibara2, Fuyuki Tateno2
1Clinical Physiology Unit, Sakura Medical Center, Toho University, Sakura, Japan.
Lower Urinary Tract Symptoms
|December 15, 2015
Summary
Spinocerebellar ataxia 31 (SCA31) can cause neurogenic urinary retention due to sacral spinal cord involvement. This condition should be considered in patients with cerebellar ataxia and voiding issues.
Area of Science:
- Neurology
- Urology
- Genetics
Background:
- Spinocerebellar ataxia type 31 (SCA31) is a rare genetic neurodegenerative disorder.
- Neurogenic voiding dysfunction is a known complication of some spinocerebellar ataxias.
- This case highlights a potential link between SCA31 and urinary retention.
Purpose of the Study:
- To report a case of spinocerebellar ataxia 31 (SCA31) presenting with neurogenic voiding dysfunction.
- To investigate the underlying mechanisms of urinary retention in this SCA31 patient.
Main Methods:
- Case report methodology.
- Clinical evaluation including urodynamics and external sphincter electromyography.
- Genetic analysis for TGGAA repeat expansion confirming SCA31 diagnosis.
Main Results:
- A 73-year-old male with SCA31 developed partial urinary retention.
- Urodynamics showed a weak detrusor and significant post-void residual urine volume.
- Electromyography revealed neurogenic abnormalities, indicating sacral spinal cord involvement.
Conclusions:
- Neurogenic urinary retention should be considered in the differential diagnosis of cerebellar ataxia, particularly SCA31.
- While neurogenic causes are important, potential outflow obstruction in male patients must also be evaluated.
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