Being established in 2019 and operated on a multidisciplinary basis, the Muscle Diseases Center of Koç University Hospital delivers services at international standards for diagnosis and treatment of neuromuscular diseases, such as muscular dystrophy that involves muscles; myasthenia gravis that involves neuromuscular junction; polyneuropathy that affects nerve ends; and ALS (amyotrophic lateral sclerosis) that involves motor neurons, through outpatient services that covers all relevant disciplines and council discussion.
The Muscle Diseases Center is among reference clinics both in our country and at international scale regarding diagnosis, follow-up and treatment of muscular and all other neuromuscular diseases, which are pretty rare in general population, but lead to significant disability when develops, in all age groups, ranging from infants to elderly.
Most of neuromuscular diseases have genetic etiology and therefore, they fall into group of genetic muscle disease; today, it is possible to mention about curative options for a very small group of those diseases or in other words, there is no known medication treatment for most of them. Research and clinical trials have been continuing all over the world to discover a treatment option for those diseases. Some neuromuscular diseases are acquired and they can be cured. It is very crucial to follow up the genetic diseases with ever increasing treatment options based on knowledge of treatable acquired muscle disease and advanced technology in terms of providing our patients with such treatment options, when an efficient treatment modality is discovered.
The distinctive features enabling the muscle diseases center regarded as an important facility in our country and all around the world on diagnosis and treatment of muscle and other neuromuscular disease are as follows:
Having adopted multidisciplinary approach, the Center is operated under supervision of neurology academicians, who undertook managerial positions in national and international patient societies and have profound experience in diagnosis, treatment and follow-up of muscle diseases and other neuromuscular disorders, in cooperation with other nationally and internationally renowned academicians. All processes are based on efforts, communication and cooperation of genetics, immunology, muscular pathology, cardiology, pulmonary medicine, physical medicine, orthopedics, endocrinology and nutrition, rheumatology and other specialty disciplines.
Since both adult and pediatric neurologists are available in our team, we have the chance to provide all individuals with a muscle disease at any age range with means of diagnosis, follow-up and treatment. Thus, solutions can be created for both adult and pediatric patients.
The high-tech genetic diagnosis center is supervised by an academician, who is well renowned at both national and international scale, and qualified genetic specialists, who are extremely familiar with neuromuscular diseases, particularly the muscle diseases with genetic etiology and have achieved diagnosis rates at global standards, are qualified enough to make final diagnosis of all muscle and other neuromuscular diseases. Neuromuscular Genetic Council is a unique platform, where genetic test results, reports, genetic diagnosis flow charts and research-based tests are discussed by neurologists and genetic specialists in monthly meetings. Genetic laboratory diagnosis of FSHD (FascioScapuloHumeral Dystrophy), a genetic muscle disease that we are particularly interested in, can be made only by our team of genetic specialists at Genetic Diseases Diagnosis Center of Koç University Hospital using state-of-the-art technology in our country. This novel technological method is not widely used yet at international scale. Therefore, our Center also gains attraction of neighboring countries. Advancements in diagnosis technologies also pave the way for studies conducted on treatment of such genetic muscle diseases and contribute to discovery of novel treatments. Our Center conducts genetic studies on FSHD both in our university and in the form of joint projects with European countries.
Muscle biopsy and digital muscle biopsy can be performed in a very limited number of centers in our country, although these procedures are very crucial in diagnosis of muscle diseases; however, they can be performed by an academician, who has knowledge and many years of experience in muscle pathology, is among founders of muscle pathology and head of a team in our Center. Muscle biopsy is a part of efforts made to verify the final diagnosis of muscle diseases and also of the research activities of Koç University Hospital Muscle Diseases Center on treatment of muscle diseases.
The ability to manage and/or correct scoliosis and other deformities through close collaboration of adult and pediatric orthopedic surgeons and physiatrists boosts our patients’ quality of life. In a genetic muscle disease, called FSHD, scapulothoracic arthrodesis (STA) – a procedure that increases quality of life in selected patients – has been performed by our orthopedics group, which has carried out highest number of this surgery at global scale, added new techniques to the surgery and ensured our center be the most qualified center in surgical treatment all around the world; the group is an inevitable part of our center and it is managed by an academician with substantial national and international recognition. Such studies of our team have been published many times in reputable scientific journals*. Our team has made significant strides, through those surgeries, in improvement of quality of life for patients with genetic muscle disease.
We follow up our patients based on neuromuscular disease follow-up protocols by experienced adult and pediatric cardiologists and pulmonary medicine specialists as well as rheumatologists and endocrinologists/nutrition experts who have focused on neuromuscular diseases.
We believe that Multidisciplinary Muscle Diseases Council is an inevitable part of multidisciplinary approach regarding treatment of muscle and other neuromuscular diseases; the council unites all relevant disciplines in our center, creates a common solution for difficult problems for each pain and makes a joint decision about medical and surgical treatments.
All units of Koç University Hospital Muscle Diseases Center reserve a service quota for domestic and international patients of Koç University Hospital Muscle Diseases Center on examination days and hours. Thus, examinations and consultations are usually completed on the same day for patients presenting to our hospital for diagnosis, follow-up and treatment. Accordingly, those patients suffering from limited movement due to their diseases do not need to visit the hospital repeatedly. All appointment and admission procedures are carried out under supervision of a coordinator in the Center, which accepts coverage of Social Security Institute, and thus, patient satisfaction is maximized through patient-physician communication and ease of contact with the center for all problems of patients.
It is estimated and hoped that more clear and efficient methods will be identified in the near future regarding investigational treatment processes of genetic muscle diseases. Our center closely monitors the treatment options that are ever increasing through the contribution of advanced technology in the field of genetic muscle diseases and it is very crucial to have our patients gain access to the approved treatments.
Also conducting many scientific studies in this field, our Muscle Diseases Center delivers evidence-based, world class diagnosis, follow-up and treatment services in a single unit strictly according to ethical principles through patient-centered approach and cooperation of all relevant clinics and the Center admits patients of all age groups, ranging from children to elderly. Our team not only monitors most recent advancements in treatment of muscle diseases, but it also participates in studies conducted on this group of diseases.
- Erşen A, Atalar AC, Bayram S, Demirel M, Tunalı O, Demirhan M.
- Long-term results of scapulothoracic arthrodesis with multiple cable method for facioscapulohumeral dystrophy: do the results deteriorate over time?. Bone Joint J. 2018;100-B(7):953‐956. doi:10.1302/0301-620X.100B7.BJJ-2017-1438.R1
- Cakmak ÖÖ , Eren I , Aslanger A , Günerbüyük C , Kayserili H , Oflazer P , Sar C , Demirhan M , Özdemir YG .
- A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy. Ideggyogy Sz. 2018 Sep 30;71(9-10):337-342. English. doi: 10.18071/isz.71.0337. PMID: 30335266.
- Eren İ, Erşen A, Birsel O, Atalar AC, Oflazer P, Demirhan M.
- Functional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy. J Bone Joint Surg Am. 2020;102(3):237‐244. doi:10.2106/JBJS.19.00571
- Eren İ, Abay B, Günerbüyük C, Çakmak ÖÖ, Şar C, Demirhan M.
- Spinal fusion in facioscapulohumeral dystrophy for hyperlordosis: A case report. Medicine (Baltimore). 2020;99(8):e18787. doi:10.1097/MD.0000000000018787
- Eren İ, Birsel O, Çakmak ÖÖ, Aslanger A, Özdemir YG, Eraslan S, Kayserili H, Oflazer P, Demirhan M.
- A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy. Orthop Traumatol Surg Res. 2020. doi:10.1016/j.otsr.2020.03.002
- Börklü-Yücel E, Demiriz Ç, Avcı Ş, Vanlı-Yavuz EN, Eraslan S, Oflazer P, Kayserili H.
- Clinical exome sequencing in neuromuscular diseases: an experience from Turkey. Neurol Sci. 2020 Mar 5. doi: 10.1007/s10072-020-04304-w. [Epub ahead of print] PMID:32140910
- Oflazer P.
- Giant cell myositis and myocarditis revisited, Acta Myologica 2020; XXXIX: p. 302-306 doi:10.36185/2532-1900-033
- STEPIN-FSHD Facioscapulohumeral dystrophy (FSHD) experience: First step to the molecular diagnosis of muscular dystrophies
PI: Prof. Hülya Kayserili MD.PhD.
Koç University SEED Funding SF.00020; 2015-2018 term
Safety and Efficacy of a possible epigenetic therapy for FacioScapuloHumeral dystrophy (FSHD)
EU Coordinator: Davide Gabellini,PhD. Türkiye PI: Serpil Eraslan, PhD.
Pre-Clinical Research To Develop Effective Therapies For Rare Diseases- European Joint Programmes on Rare Diseases; EJPRD20-191/ TUBITAK Safety and Efficiency of a Possible Epigenetic Treatment for FSHD Muscle Dystrophy Project Nr.: 121N274; 2021-2024 period
- Comparing Efficiencies of Exercise Trainings Supervised by Physiotherapist through Remote Access and at Hospital for Patients with Proximal Muscle Weakness due to A Muscle Disease. Muscle Diseases Center, Koç University Hospital
Joint Study of Physical Medicine and Rehabilitation Department.
Koç University, Ethics Committee Nr. 2018.150.IRB1.017
- Investigating Difference of Awareness on Use of Mestinon (Pyridostigmine bromide) in Informed and Non-informed Patients with Myasthenia Gravis.
Muscle Diseases Center, Koç University Hospital
Koç University, Ethics Committee Nr. 2019.268.IRB3.131