Abstract：
BACKGROUND: DM1 is a multisystem disorder caused by expansion of a CTG triplet repeat in the 3\' non-coding region of DMPK. Neuropsychological consequences and sleep abnormalities are important associations in DM1.
OBJECTIVE: To describe the clinical phenotype, disease progression and characterize the sleep alterations and cognitive abnormalities in a sub-set of patients.
METHODS: A retrospective study on 120 genetically confirmed DM1 cases. Findings in neuropsychological assessment and multiple sleep questionnaires were compared with 14 age and sex matched healthy individuals. All 120 patients were contacted through letters/telephonic consultation/hospital visits to record their latest physical and functional disabilities.
RESULTS: The mean age at symptom onset was 23.1 ± 11.4 years, M: F = 3.8:1, mean duration of illness = 14.3 ± 9.5 years. Clinically 54.2% had adult onset form, juvenile = 27.5%, infantile = 10.8%, late adult onset = 7.5%. Paternal transmission occurred more frequently. The predominant initial symptoms were myotonia (37.5%), hand weakness (21.7%), lower limb weakness (23.3%) and bulbar (10%). Twenty patients completed sleep questionnaires (SQ). Abnormal scores were noted in Epworth sleepiness scale (55%); Pittsburgh sleep quality index (45%); Berlin SQ (30%); Rapid eye movement sleep Behaviour Disorder SQ (15%); Restless leg syndrome rating scale (10%). Neuropsychological assessment of 20 patients revealed frontal executive dysfunction, attention impairment and visuospatial dysfunction. Frontal lobe was most affected (72%) followed by parietal (16%) and temporal lobe (12%).
CONCLUSIONS: The current study provides a comprehensive account of the clinical characteristics in Indian patients with DM1. Hypersomnolence was most commonly seen. Excessive daytime sleepiness and Sleep disordered breathing were the most common sleep related abnormality. Cognitive impairment comprised predominantly of frontal lobe dysfunction.
OBJECTIVE: To describe the clinical phenotype, disease progression and characterize the sleep alterations and cognitive abnormalities in a sub-set of patients.
METHODS: A retrospective study on 120 genetically confirmed DM1 cases. Findings in neuropsychological assessment and multiple sleep questionnaires were compared with 14 age and sex matched healthy individuals. All 120 patients were contacted through letters/telephonic consultation/hospital visits to record their latest physical and functional disabilities.
RESULTS: The mean age at symptom onset was 23.1 ± 11.4 years, M: F = 3.8:1, mean duration of illness = 14.3 ± 9.5 years. Clinically 54.2% had adult onset form, juvenile = 27.5%, infantile = 10.8%, late adult onset = 7.5%. Paternal transmission occurred more frequently. The predominant initial symptoms were myotonia (37.5%), hand weakness (21.7%), lower limb weakness (23.3%) and bulbar (10%). Twenty patients completed sleep questionnaires (SQ). Abnormal scores were noted in Epworth sleepiness scale (55%); Pittsburgh sleep quality index (45%); Berlin SQ (30%); Rapid eye movement sleep Behaviour Disorder SQ (15%); Restless leg syndrome rating scale (10%). Neuropsychological assessment of 20 patients revealed frontal executive dysfunction, attention impairment and visuospatial dysfunction. Frontal lobe was most affected (72%) followed by parietal (16%) and temporal lobe (12%).
CONCLUSIONS: The current study provides a comprehensive account of the clinical characteristics in Indian patients with DM1. Hypersomnolence was most commonly seen. Excessive daytime sleepiness and Sleep disordered breathing were the most common sleep related abnormality. Cognitive impairment comprised predominantly of frontal lobe dysfunction.
摘要：
背景：DM1是由DMPK的3'非编码区的CTG三联体重复序列的扩展引起的多系统疾病。神经心理后果和睡眠异常是DM1的重要关联。
目的：为了描述临床表型，疾病进展和表征一组患者的睡眠改变和认知异常。
方法：对120例基因证实的DM1病例进行回顾性研究。将神经心理学评估和多项睡眠问卷的结果与14名年龄和性别匹配的健康个体进行比较。通过信件/电话咨询/医院访问联系了所有120名患者，以记录他们最近的身体和功能残疾。
结果：症状发作的平均年龄为23.1±11.4岁，M:F=3.8:1,平均病程=14.3±9.5年。临床上54.2%有成人起病形式，青少年=27.5%，婴儿=10.8%，成年晚期发病=7.5%。父亲的传播更频繁。主要的初始症状是肌强直（37.5％），手部无力(21.7%)，下肢无力(23.3%)和延髓(10%)。20名患者完成了睡眠问卷（SQ）。Epworth嗜睡量表（55％）；匹兹堡睡眠质量指数（45％）；柏林SQ（30％）；快速眼动睡眠行为障碍SQ（15％）；不安腿综合征评定量表（10％）。20例患者的神经心理学评估显示额叶执行功能障碍，注意障碍和视觉空间功能障碍。额叶受影响最大（72％），其次是顶叶（16％）和颞叶（12％）。
结论：目前的研究提供了印度DM1患者临床特征的全面描述。嗜睡是最常见的。白天过度嗜睡和睡眠呼吸障碍是最常见的睡眠相关异常。认知障碍主要包括额叶功能障碍。
目的：为了描述临床表型，疾病进展和表征一组患者的睡眠改变和认知异常。
方法：对120例基因证实的DM1病例进行回顾性研究。将神经心理学评估和多项睡眠问卷的结果与14名年龄和性别匹配的健康个体进行比较。通过信件/电话咨询/医院访问联系了所有120名患者，以记录他们最近的身体和功能残疾。
结果：症状发作的平均年龄为23.1±11.4岁，M:F=3.8:1,平均病程=14.3±9.5年。临床上54.2%有成人起病形式，青少年=27.5%，婴儿=10.8%，成年晚期发病=7.5%。父亲的传播更频繁。主要的初始症状是肌强直（37.5％），手部无力(21.7%)，下肢无力(23.3%)和延髓(10%)。20名患者完成了睡眠问卷（SQ）。Epworth嗜睡量表（55％）；匹兹堡睡眠质量指数（45％）；柏林SQ（30％）；快速眼动睡眠行为障碍SQ（15％）；不安腿综合征评定量表（10％）。20例患者的神经心理学评估显示额叶执行功能障碍，注意障碍和视觉空间功能障碍。额叶受影响最大（72％），其次是顶叶（16％）和颞叶（12％）。
结论：目前的研究提供了印度DM1患者临床特征的全面描述。嗜睡是最常见的。白天过度嗜睡和睡眠呼吸障碍是最常见的睡眠相关异常。认知障碍主要包括额叶功能障碍。
