The Physiotherapy and Rehabilitation in Calfan Syndrome

Hasan Kalyoncu University

Status: Completed

Conditions: CALFAN Syndrome

Treatments: Other: Rehabilitation

Study type: Interventional

Funder types: Other

Identifiers

NCT04653909

2020/032

Details and patient eligibility

About

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.

Full 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.

Enrollment: 1 patient

Sex: Female

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Calfan syndrome

Exclusion criteria

• Any surgery in past six months

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

Case

Experimental group

Description:

A patient who was diagnosed with the calfan syndrome

Treatment:

Other: Rehabilitation