The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Trunk Control
研究概览
简要总结
Calfan syndrome is a progressive neurodegenerative systemic disease. It is a rare and difficult disease to diagnose due to the complex symptoms that occur over the years to postpartum. The aim of this study is to investigate the effectiveness of the physiotherapy and rehabilitation program in a rare case with Calfan syndrome.
详细描述
13 years old, a female patient was diagnosed with Calfan syndrome one year ago. Only 11 patients have been identified in the literature. Its phenotype is characterized by recurrent episodes of liver failure and hepatic fibrosis in early childhood. Our patient had neurological symptoms that were gait disturbances, ataxia and tremor, as well as peripheral neuropathy and cognitive impairment. Also, musculoskeletal problems such as scoliosis, hip dysplasia, osteoporosis, thoracic kyphosis, and increased lordosis were observed.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Calfan syndrome
排除标准
- •Any surgery in past six months
结局指标
主要结局
Trunk Control
时间窗: 3 month
The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination
The quality of life
时间窗: 3 month
The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level.
The Functional Independence
时间窗: 3 month
The Functional Independence Scale for Children (WeeFIM) was used determine to independence level.
The severity of ataxia
时间窗: 3 month
The International Ataxia Rating Scale (ICARS) was used to determine the severity
次要结局
- Upper extremity disability level(3 month)
- Upper extremity functional performance(3 month)
研究者
Serkan Usgu
Assistant of professeur
Hasan Kalyoncu University