The Physiotherapy and Rehabilitation in Calfan Syndrome
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
N/A |
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.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Experimental: Case A patient who was diagnosed with the calfan syndrome |
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.
Other Names:
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Outcome Measures
Primary Outcome Measures
- 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 Outcome Measures
- 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
Eligibility Criteria
Criteria
Inclusion Criteria:
- Calfan syndrome
Exclusion Criteria:
- Any surgery in past six months
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Hasan Kalyoncu Üniversity | Gaziantep | Turkey |
Sponsors and Collaborators
- Hasan Kalyoncu University
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
- Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8.
- Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker S, Hoffmann GF, Jung-Klawitter S. Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1. Stem Cell Res. 2019 May;37:101428. doi: 10.1016/j.scr.2019.101428. Epub 2019 Mar 22.
- Spagnoli C, Frattini D, Salerno GG, Fusco C. On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure. Genet Med. 2019 Jul;21(7):1663-1664. doi: 10.1038/s41436-018-0389-6. Epub 2018 Dec 10.
- 2020/032