Balance and walking involvement in facioscapulohumeral dystrophy: a pilot study on the effects of custom lower limb orthoses.

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.

Balance and walking in facioscapulohumeral muscular dystrophy: multiperspective assessment.

BACKGROUND: In the Facioscapulohumeral muscular dystrophy (FSHD), the association of ankle muscle impairment with knee, hip and abdominal weakness causes complex alterations of static (postural) and dynamic (walking) balance, increasing the risk of recurrent falls. Stereophotogrammetric system and body-worn gyroscopes were used to focus on locomotor capacity and upper body movements in FSHD patients respectively. No data have been reported about static balance (plantar pressure and stabilometric parameters) and dynamic balance (spatio-temporal parameters during walking) in patients with FSHD. Moreover it is not known if the balance involvement influences disability and quality of life (QoL) of these patients. AIM: The aim of this study is to quantitatively assess static and dynamic balance in FSHD patients and their influence on disability and QoL. DESIGN: Case control-study. SETTING: Outpatient Rehabilitation Department. POPULATION: Sixteen FSHD patients were compared with 16 matched healthy subjects. METHODS: A baropodometric platform was used to measure plantar pressure and centre of pressure in stance (static evaluation), and spatio-temporal parameters during walking (dynamic evaluation). These quantitative results in FSHD patients were also correlated with validated clinical (Clinical Severity Scale), performance (10m and 2 min Walking Test), disability (Berg Balance Scale, Rivermead Mobility Index) and quality of life (QoL) measures (SF-36, NASS). RESULTS: The patients moved the plantar pressure forward from hindfoot to forefoot. Static balance was significantly reduced in patients compared with healthy subjects. Dynamic evaluation of walking showed a significant reduction of velocity and step length in the patients, and a significant increase in step width. Dynamic and static parameters were significantly related to a reduction of 10 mWT performance while only dynamic parameters were strongly related to disability and QoL. CONCLUSION: FSHD patients present an abnormal static and dynamic balance and they show compensation strategies to avoid falling . The involvement of the dynamic balance worsens the physical aspects of QoL and induces disability. The involvement of static balance induces a reduction of the performance in brief distances. CLINICAL REHABILITATION IMPACT: The balance training should be considered in the rehabilitation program of FSHD patients; the compensation strategies adopted by these patients should be considered in the ankle foot orthosis treatment. The static and dynamic balance assessment in FSHD patients can be used in natural history studies.

Mobility assessment of patients with facioscapulohumeral dystrophy.

BACKGROUND: Facioscapulohumeral muscular dystrophy is the third most common form of inherited myopathies with a prevalence of 1:20,000. Since both muscle involvement and disease progression are heterogeneous and unpredictable, quantitative assessment tools are needed to evaluate the effects of pharmacological and physical training treatments. METHODS: The instrumented movement analysis of 12 patients with facioscapulohumeral dystrophy and 12 control subjects was conducted using a 9-camera stereophotogrammetric system and 2 force platforms. Subjects performed four tasks of different difficulties: arm movement, level walking, step ascending, and squatting. Manual muscle test, clinical severity scale and magnetic resonance imaging were used to clinically assess the patients. FINDINGS: Walking speed and centre of mass vertical displacement during squatting were reduced in patients and can be used to assess their motor capacity. Features common in the patient sample were: the reduction of shoulder range of motion, the excessive ankle plantar-flexion during walking and step ascending, and the reduction of knee flexion-extension moment during squatting. These parameters were correlated with magnetic resonance imaging results at relevant structure level and can be used to assess the corresponding body functioning. Furthermore, instrumented movement analysis was able to distinguish from normal controls also a group of patients in which clinical assessments did not show any obvious abnormalities and had been evaluated as normal. INTERPRETATION: The quantitative assessment tool devised in this study provides suitable information in terms of both motor capacity and impairment severity of patients with facioscapulohumeral dystrophy, and, thus, encouraging its use for the evaluation of therapeutic trial outcomes for this disease.

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.

The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.