CALFAN Syndrome
Conditions
Keywords
ataxia, rehabilitation, disabilities
Brief 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.
Interventions
OTHERRehabilitation
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.
Sponsors
Hasan Kalyoncu University
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
Case study
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
Yes
Inclusion criteria
* Calfan syndrome
Exclusion criteria
* Any surgery in past six months
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Trunk Control | 3 month | The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination |
| The severity of ataxia | 3 month | The International Ataxia Rating Scale (ICARS) was used to determine the severity |
| The quality of life | 3 month | The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level. |
| The Functional Independence | 3 month | The Functional Independence Scale for Children (WeeFIM) was used determine to independence level. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Upper extremity functional performance | 3 month | The 9-Hole Peg test was used to evaluate upper extremity performance |
| Upper extremity disability level | 3 month | the Quick Questionnaire for Arm, Shoulder and Hand Problems (Q-DASH) scale was used to evaluate physical disability and symptoms of upper extremity |
Countries
Turkey (Türkiye)
Outcome results
None listed