NCT04653909

The Physiotherapy and Rehabilitation in Calfan Syndrome

The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 1 (actual)
• Sponsor: Hasan Kalyoncu University · Academic / Other
• Sex: Female
• Age: —
• Healthy volunteers: Accepted

Summary

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.

Detailed description

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.

Conditions

• CALFAN Syndrome

Interventions

Type	Name	Description
OTHER	Rehabilitation	The abdominal and back strengthening exercises on the mat, the open-closed perturbation training in sitting and standing positions for trunk control. Functional exercises were performed in the same positions for simulating daily living activities. The stretching and strengthening exercises were applied to her scoliosis and also given trunk orthoses.

Timeline

• Start date: 2020-03-01
• Primary completion: 2020-10-20
• Completion: 2020-11-17
• First posted: 2020-12-04
• Last updated: 2020-12-04

Locations

1 site across 1 country: Turkey (Türkiye)