Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One male and two female cases in a family of Machado-Joseph disease were reported. Two cases showed typical symptoms that are characterized by bulging eyes, ophthalmoplegia, dystonia, ataxia, spasticity of extremities and amyotrophy, and were consistent with Type II (Rosenberg et al). But another one lacked diversity of the symptoms, showing mainly progressive cerebellar ataxia for over 10 years. We pointed out the existence of a new type of MJD case exhibiting only progressive cerebellar ataxia over a long period. A female patient had dyspnea and insomnia after 20 years in her clinical course, and central sleep apnea was revealed by respiratory monitor. But, the apnea and irregular respiration appeared in both awake and sleep stages. We described the importance of attention to the apnea as a new complication of Machado-Joseph disease.
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PMID:[A family of Machado-Joseph disease with a patient having frequent apnea in all day]. 191 27

Recently, discussions about the clinical features of dentatorubropallidoluysian atrophy (DRPLA), especially the existence of an ataxo-choreoathetoid type, have increased. Traditionally, DRPLA patients have been thought to present with involuntary movements and dementia. Here, we report a patient that presented with ataxia, spasticity of the right lower extremity and mild sensory disturbances. He did not show either apparent involuntary movement or dementia. Mini-mental state examination demonstrated a score of 29/30. The cerebellar output system involving the dentate nuclei and superior cerebellar peduncles seemed to be atrophic yet the cerebellar input system involving the middle cerebellar peduncles was preserved on MRI. In addition, there was an expansion of the atrophin1 (ATN1) CAG repeat of chromosome 12p: 9/61. This seems to be the first case report of a genetically confirmed DRPLA patient presenting with clinical manifestations of Machado-Joseph disease (MJD/SCA3).
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PMID:Dentatorubropallidoluysian atrophy without involuntary movement or dementia--a case report. 2062 52