Clinical Neuroscience

A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy

CAKMAK Öztop Özgür1, EREN Ilker2, ASLANGER Ayca3, GÜNERBÜYÜK Caner, KAYSERILI Hülya3, OFLAZER Piraye1, SAR Cüneyt4, DEMIRHAN Mehmet2, ÖZDEMIR Gürsoy Yasemin1

SEPTEMBER 30, 2018

Clinical Neuroscience - 2018;71(09-10)

DOI: https://doi.org/10.18071/isz.71.0337

Background - Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients. Patients and methods - 32 FSHD patients were collected between 2015-2016. Demographical and clinical features were documented. All the patients were neurologically examined. The Medical Research Council (MRC) and the FSHD evaluation scale was used to assess muscle involvement1. Scapulothoracic arthrodesis and spinal stenosis surgeries were performed in eligible patients. Results - There were 16 male and 16 female (mean age 34.4 years; range 12-73) patients. 6 shoulders of 4 patients aged between 2132 years underwent scapulothoracic arthrodesis (two bilateral, one left and one right sided). Only one 63 years old female patient with severe hyperlordosis had spinal fusion surgery. All of the patients undergoing these corrective surgeries have better functionality in daily life, as well as superior shoulder elevation. Conclusion - Until the emergence and clinical use of novel therapeutics, surgical interventions are indicated in carefully selected patients with FSHD to improve arm movements, the posture and the quality of life of patients in general. Scapulothorosic arthrodesis is a management with good clinical results and patient satisfaction. In selected cases other corrective orthopedic surgeries like spinal fusion may also be considered.

AFFILIATIONS

  1. Koç University, School of Medicine, Department of Neurology, Istanbul, Turkey
  2. Koç University, School of Medicine, Department of Orthopaedics and Traumatology, Istanbul, Turkey
  3. Koç University, School of Medicine, Department of Medical Genetics, Istanbul, Turkey
  4. Istanbul University, Istanbul Faculty of Medicine, Department of Orthopaedics and Traumatology, Istanbul, Turkey

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