Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urodynamic exploration with cystometry was performed at random on 55 of the 195 patients suffering from hereditary spinocerebellar degeneration (Friedreich's disease 43 cases, Pierre-Marie hereditary ataxia nine cases, Strumpell-Lorrain disease three cases). The authors observed disturbances in continence without urinary disorders, even when the bladder was atonic. In the case of Friedreich's disease, among the 18 patients with urgent urination or with urinary leakage, the bladder was found to be normal in only two cases. Although 25 patients evidenced no urinary disturbances, a through study revealed nine abnormal bladders. In the case of Pierre-Marie disease, six normal bladders and three pathological bladders were found. A single abnormal bladder was found in Strumpell-Lorrain disease. Two types of pathological bladder were observed: the atonic bladder was compared with the traumatic bladder, and was found primarily in conjunction with peripheral sensory disturbances. The hypertonic bladder appears when sensory involvement is not evident. The authors discuss the pathophysiology of these disturbances of continence.
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PMID:[Continence disorders in hereditary spinocerebellar degeneration. Comparison of clinical and urodynamic findings in 55 cases]. 649 33