Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach
Abstract Background Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-12-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02976-z |
| _version_ | 1797376773598478336 |
|---|---|
| author | Anna Bruna Ronchetti Marina Usai Valentina Savino Marco Scaglione Chiara Maria Tacchino Marta Bertamino Paolo Moretti Maja Di Rocco |
| author_facet | Anna Bruna Ronchetti Marina Usai Valentina Savino Marco Scaglione Chiara Maria Tacchino Marta Bertamino Paolo Moretti Maja Di Rocco |
| author_sort | Anna Bruna Ronchetti |
| collection | DOAJ |
| description | Abstract Background Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options. Currently, the indication and plan are overlooked, nonspecific and reported only for one patient. Methods We describe a case series of MCTO patients diagnosed and followed by a centre to identify functional deficit as a potential clinical marker of disease progression for future etiological therapies. In addition, we define a symptomatic treatment approach and specific clinical management, including a patient-centred rehabilitation approach. Functional assessments are performed independently by a multidisciplinary group to establish the functional abilities of patients and the relationship between residual motor skills and their degree of autonomy and participation. We suggest a way to identify a rehabilitation plan based on a specific disease using the International Classification of Functioning, Disability and Health Children and Youth (ICF-CY). Results To define a reliable and reproducible “Function Profile”, through age and over time, we used to value the disease status according to the ICF-CY domains. It could be used to determine the complexity of the illness, its overall impact on the complexity of the person and the burden on the caregiver, and an eventual short- and long-term rehabilitation plan for MCTO and other ultra-rare diseases. Conclusion Based on the MCTO experience, we suggest a way to determine a rehabilitation plan based on a specific disease and patient needs, keeping in mind that often the final point is not recovering the full function but improving or maintaining the starting point. In all cases, each patient at the time of diagnosis requires a functional assessment that must be repeated over time to adjust the course of rehabilitation. The evaluations revealed the importance of early rehabilitation management in enhancing independence, participation and control of stress deconditioning, shrinking of muscle tendons and loss of movement to immobility. |
| first_indexed | 2024-03-08T19:43:27Z |
| format | Article |
| id | doaj.art-74a1e44fbf534313b31d48e3737af182 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-08T19:43:27Z |
| publishDate | 2023-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-74a1e44fbf534313b31d48e3737af1822023-12-24T12:29:05ZengBMCOrphanet Journal of Rare Diseases1750-11722023-12-0118111010.1186/s13023-023-02976-zMulticentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approachAnna Bruna Ronchetti0Marina Usai1Valentina Savino2Marco Scaglione3Chiara Maria Tacchino4Marta Bertamino5Paolo Moretti6Maja Di Rocco7Physical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina GasliniPhysical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina GasliniDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, University of GenoaDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, University of GenoaPhysical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina GasliniPhysical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina GasliniPhysical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina GasliniRare Diseases Unit, IRCCS Istituto Giannina GasliniAbstract Background Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options. Currently, the indication and plan are overlooked, nonspecific and reported only for one patient. Methods We describe a case series of MCTO patients diagnosed and followed by a centre to identify functional deficit as a potential clinical marker of disease progression for future etiological therapies. In addition, we define a symptomatic treatment approach and specific clinical management, including a patient-centred rehabilitation approach. Functional assessments are performed independently by a multidisciplinary group to establish the functional abilities of patients and the relationship between residual motor skills and their degree of autonomy and participation. We suggest a way to identify a rehabilitation plan based on a specific disease using the International Classification of Functioning, Disability and Health Children and Youth (ICF-CY). Results To define a reliable and reproducible “Function Profile”, through age and over time, we used to value the disease status according to the ICF-CY domains. It could be used to determine the complexity of the illness, its overall impact on the complexity of the person and the burden on the caregiver, and an eventual short- and long-term rehabilitation plan for MCTO and other ultra-rare diseases. Conclusion Based on the MCTO experience, we suggest a way to determine a rehabilitation plan based on a specific disease and patient needs, keeping in mind that often the final point is not recovering the full function but improving or maintaining the starting point. In all cases, each patient at the time of diagnosis requires a functional assessment that must be repeated over time to adjust the course of rehabilitation. The evaluations revealed the importance of early rehabilitation management in enhancing independence, participation and control of stress deconditioning, shrinking of muscle tendons and loss of movement to immobility.https://doi.org/10.1186/s13023-023-02976-zMulticentric carpo-tarsal osteolysisICF-CYClinical outcome measuresPhysiotherapyOccupational therapyRehabilitation |
| spellingShingle | Anna Bruna Ronchetti Marina Usai Valentina Savino Marco Scaglione Chiara Maria Tacchino Marta Bertamino Paolo Moretti Maja Di Rocco Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach Orphanet Journal of Rare Diseases Multicentric carpo-tarsal osteolysis ICF-CY Clinical outcome measures Physiotherapy Occupational therapy Rehabilitation |
| title | Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach |
| title_full | Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach |
| title_fullStr | Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach |
| title_full_unstemmed | Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach |
| title_short | Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach |
| title_sort | multicentric carpo tarsal osteolysis syndrome mcto and function profile a rehabilitative approach |
| topic | Multicentric carpo-tarsal osteolysis ICF-CY Clinical outcome measures Physiotherapy Occupational therapy Rehabilitation |
| url | https://doi.org/10.1186/s13023-023-02976-z |
| work_keys_str_mv | AT annabrunaronchetti multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach AT marinausai multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach AT valentinasavino multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach AT marcoscaglione multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach AT chiaramariatacchino multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach AT martabertamino multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach AT paolomoretti multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach AT majadirocco multicentriccarpotarsalosteolysissyndromemctoandfunctionprofilearehabilitativeapproach |