The Physiotherapy and Rehabilitation in Calfan Syndrome

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.

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.

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.

The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination

the Quick Questionnaire for Arm, Shoulder and Hand Problems (Q-DASH) scale was used to evaluate physical disability and symptoms of upper extremity

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