The Physiotherapy and Rehabilitation in Calfan Syndrome

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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CALFAN Syndrome

Intervention / Treatment
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* Other: Rehabilitation


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Calfan syndrome Exclusion Criteria: Any surgery in past six months
Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Interventional Model Description: Case study
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Case<br>A patient who was diagnosed with the calfan syndrome | Other: Rehabilitation<br>* 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.<br>* Other names: Orthoses;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Trunk Control | The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination | 3 month | 
| The severity of ataxia | The International Ataxia Rating Scale (ICARS) was used to determine the severity | 3 month | 
| The quality of life | The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level. | 3 month | 
| The Functional Independence | The Functional Independence Scale for Children (WeeFIM) was used determine to independence level. | 3 month | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Upper extremity functional performance | The 9-Hole Peg test was used to evaluate upper extremity performance | 3 month | 
| Upper extremity disability level | the Quick Questionnaire for Arm, Shoulder and Hand Problems (Q-DASH) scale was used to evaluate physical disability and symptoms of upper extremity | 3 month | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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ataxia, rehabilitation, disabilities