Established in 2019, the Muscular Diseases Center of Koç University Hospital assumes a multidisciplinary approach and provides service at international standards and evaluates cases at polyclinic and council meetings involving all relevant disciplines in diagnosis and treatment of all diseases associated with muscles, neuromuscular junctions, nerve ends and motor neurons such as muscular dystrophy, myasthenia gravis, polyneuropathy and ALS (amyotrophic lateral sclerosis).    

In this regard, our Muscular Diseases Center ranks among the most outstanding national and international reference clinics concentrating on diagnosis, follow-up and treatment of muscular and muscular conditions, which cause a severe extent of disability despite having a sporadic prevalence, among all age groups from children to seniors.  

The majority of neuromuscular diseases are genetically inherited and cannot be treated definitively for the time being. On the other hand, there are definitive treatment options for some acquired neuromuscular conditions. It is of utmost importance to recognize such treatable acquired conditions while keeping up-to-date with the ongoing advancements in treatment of genetic diseases so as to adopt and utilize any novel treatment to be introduced. It is expected and projected that quite more precise and effective methods will be developed as a result of continued research efforts regarding various genetic conditions.

Our Center of Muscular Diseases currently not only leads numerous scientific studies in this field*, but also serves all age groups from children to seniors with evidence-based diagnostic, follow-up and treatment services at global standards within the framework of ethical codes of conduct, a patient-oriented approach and interdisciplinary work among all relevant clinical branches. 

The center boasts a team of nationally and internationally recognized faculty members led by a neurology specialist who has acted in administrative and managing positions in the field as well as at patient associations, and is equipped with years of experience in diagnosis, follow-up and treatment of muscular and neuromuscular diseases. The entire process of the center is based on joint efforts, communication and collaboration among genetics, immunology, muscular pathology, cardiology, pulmonary medicine, physical medicine, orthopedics, endocrinology, nutrition, rheumatology and other disciplines, as necessary. 
 
The primary reasons why the Muscular Diseases Center is acknowledged as a national and international reference center can be listed as follows:

A faculty member, who is a national pioneer and practitioner of muscular pathology with vast experience in the field, performs muscle biopsy and digital muscle biopsy -procedures that are available at only a few institutions in Turkey- at our center. Having such a facility allows precise diagnosis of muscular diseases and assists us in ongoing research studies. 

Our genetic diagnosis center is fully equipped with the latest technology and reinforced with a team of competent genetics specialists who are quite knowledgeable in neuromuscular diseases and have achieved globally renowned diagnostic precision. As of now, genetic diagnosis of the muscular condition known as FSHD can be conducted only by our genetics team within the country. We are conducting genetic research in this regard at our university and also in collaboration with European nations.

Thanks to the possibility of close cooperation with adult and pediatric, we are able to take under control and/or treat scoliosis and other deformities, which effectively improves their quality of life. Performing the highest global number of scapulothoracic arthrodesis surgeries and even adding new surgical methods to this type of operation, the orthopedics team constitutes an integral part of our center as well. 

Our adult and pediatric cardiology, pulmonology, endocrinology and nutrition specialists assist us in observation of patients with neuromuscular conditions.

The Multidisciplinary Muscle Diseases Council gathers together all disciplines involved in our center, procedures solutions to challenging problems for each case, and leads to joint decisions regarding medical and surgical treatments.

Monthly meetings of the neuromuscular genetics council are an intrinsic platform for neurologists and genetics specialists to discuss genetic outcomes, genetic diagnostic flowcharts and research-oriented tests.


All units that are a part of the KUH Muscular Diseases Center allocate a certain service quota of national and international patients and often complete their investigations and consultation procedures within the same day, which eliminates the need for repeated hospital visits particularly for patients who suffer from movement difficulties.
 

PUBLICATIONS OF OUR CENTER:


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

FREQUENTLY ASKED QUESTIONS

  • Weakness in upper and lower extremities 
  • Gait disorder and immobility  
  • Frequent falling  
  • Inability to raise arms or use hands  
  • Inability to hold the head upright  
  • Difficulty standing up  
  • Inability to stand up from bed  
  • Severe fatigue  
  • Drooping eyelids and/or diplopia  
  • Dysphagia and/or speech disorder  
  • Spinal scoliosis  
  • Formication and numbing in hands and feet  
  • Deformities or thinning in caliber of hands and/or feet  
  • Unsteadiness 
  • Myopathy, myositis, myasthenia, motor neuron disease, polyneuropathy  
  • Neuromuscular diseases, a subgroup of neurology  
  • Other disciplines that look into neuromuscular diseases: Pediatric neurology, pathology, medical genetics, cardiology, pulmonary medicine, physiotherapy and rehabilitation, orthopedics, rheumatology, endocrinology, nutrition, psychiatry  
  • Electromyography  
  • Muscle biopsy and pathology  
  • Genetic tests  
  • Cardiological investigations  
  • Respiratory tests  
  • Lumbar puncture