Balance and walking involvement in Facioscapulohumeral Muscular Dystrophy (FSHD): a pilot study on the effects of custom lower limb orthoses

Irene Giovanna Aprile, Corrado Bordieri, A Gilardi, Marco Laineri Milazzo, G Russo, F De Santis, Roberto Frusciante, Elisabetta Iannaccone, Carmen Erra, Enzo Ricci, Luca Padua

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BACKGROUND: Autosomal dominant facioscapulohumeral dystrophy (FSHD), the third most common muscular dystrophy, is characterised by asymmetric and highly variable muscle weakness. In FSHD patients, the coupling of the ankle muscles impairment with the knee, hip and abdominal muscles impairment, causes complex alterations of balance and walking with deterioration of quality of life (QoL). AIM: The aim of this pilot study is to evaluate the effects of custom orthoses (foot orthosis-FO and ankle foot orthosis-AFO) on balance, walking and QoL of FSHD patients through a multidimensional approach. DESIGN: Pilot study. SETTING: Outpatient Rehabilitation Department of Don Gnocchi Foundation. POPULATION: Fifteen patients with facioscapulohumeral muscular dystrophy were studied. METHODS: On 15 FSHD patients clinical evaluation (Manual Muscle Test-MMT, Clinical Severity Score), performance tests (10 meter Walking test-10mWT and 2 minute Walking Test-2minWT), instrumental assessment (stabilometric evaluation), disability (Rivermead Mobility Index- RMI, Berg Balance Scale-BBS) and patient-oriented (Medical Outcome Study 36-item Short Form-SF-36, North American Spine Society-NASS and Visual Analogue Scale-VAS) measures were performed. Patients were evaluated first, wearing their shoes and then wearing their shoes plus orthoses. This evaluation was performed 1 month after wearing the orthoses. RESULTS: The shoes plus orthoses evaluation, performed after one month in which the patients daily wore the custom lower limb orthoses, showed a significant improvement of walking performance (10-mWT p<0.01), balance (Romberg Index p<0.05; Medio-Lateral Velocity p<0.05) and QoL (PCS p<0.01). CONCLUSION: This pilot study shows that in FSHD patients’ custom lower limb orthoses (foot-orthoses and ankle-foot-orthoses); evaluated by using a multidimensional approach, improve walking, balance and QoL. CLINICAL REHABILITATION IMPACT: These preliminary results suggest that custom lower limb orthoses could reduce the risk of falling with a positive effect on our patients’ safety. Our results should encourage the scientific community to do efficacy study on this hot topic.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaEuropean Journal of Physical and Rehabilitation Medicine
Stato di pubblicazionePubblicato - 2012


  • lower extremity
  • muscular distrophy


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