Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

BACKGROUND: Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). METHODS: We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients (N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010-2017), including the activity limitations ActivLim score, 6 min walking distance (6MWD), 10 m walk test (10MWT), MRC sum score, and forced vital capacity (FVC) sitting/supine. RESULTS: In Belgium, we calculated an LOPD prevalence of 3.9 per million. Mean age at onset of 52 LOPD patients was 28.9 years (SD: 15.8 y), ranging from 7 months to 68 years. Seventy-five percent (N = 39) of the patients initially presented with limb-girdle weakness, whereas in 13% (N = 7) respiratory symptoms were the only initial symptom. Non-invasive ventilation (NIV) was started in 37% (N = 19), at a mean age of 49.5 years (SD: 11.9 y), with a mean duration of 15 years (SD: 10.2 y) after symptom onset. Brain imaging revealed abnormalities in 25% (N = 8) of the patients, with the presence of small cerebral aneurysm(s) in two patients and a vertebrobasilar dolichoectasia in another two. Mean diagnostic delay was 12.9 years. All patients were compound heterozygotes with the most prevalent mutation being c.-32-13 T > G in 96%. We identified two novel mutations in GAA: c.1610_1611delA and c.186dup11. For the 6MWD, MRC sum score, FVC sitting and FVC supine, we measured a significant decrease over time (p = 0.0002, p = 0.0001, p = 0.0077, p = 0.0151), which was not revealed with the ActivLim score and 10MWT (p > 0.05). CONCLUSIONS: Awareness on LOPD should even be further increased because of the long diagnostic delay. The 6MWD, but not the ActivLim score, is a sensitive outcome measure to follow up LOPD patients.

Influence of ankle-foot orthoses on kinematic segmental covariation among stroke patients.

OBJECTIVES: To evaluate the effect of ankle-foot orthosis on lower limbs kinematic segmental covariation (KSC) among stroke patients. METHODS: Ten chronic hemiparetic spastic stroke patients presenting with a lack of ankle dorsiflexion were assessed with instrumented gait analysis under three conditions: wearing a shoe, with a prefabricated ankle-foot orthosis (AFO), and with a dynamic AFO. Kinematic parameters were recorded and computed KSC was calculated according to Borghese's methodology. RESULTS: Contrary to the prefabricated AFO, the dynamic AFO improved KSC of the paretic side. We observed a high correlation between the external mechanical work and the affected side's KSC. In the unaffected side, KSC was globally unchanged. CONCLUSION: In stroke patients, wearing a dynamic AFO improves KSC of the paretic lower limb only.

Treatment of genu recurvatum in hemiparetic adult patients: a systematic literature review.

INTRODUCTION AND METHODS: We carried out a systematic review of the literature on treatment of genu recurvatum in hemiparetic adult patients by searching the PubMed, Pedro, Trip Database and Science Direct databases. The following keywords were used: (recurvatum or hyperextension or knee) and (hemiplegia or hemiparesis). RESULTS: Nine articles met our selection criteria. Four assessed retraining methods (functional electric stimulation or electrogoniometric feedback), two assessed orthopaedic or neurosurgical treatments and three articles focused on orthoses. DISCUSSION AND CONCLUSION: Even though all the various treatments produced encouraging results, most of the reviewed studies presented methodological limitations. Moreover, none of the selected articles suggested a treatment strategy which takes account of the various aetiologies in genu recurvatum. On the basis of some of the reviewed articles and our own clinical experience, we propose an aetiology-specific treatment strategy for genu recurvatum patients. In a broad patient population, this categorization could form the basis for testing the specificity of each treatment method as a function of the cause of genu recurvatum. This approach could help confirm the clinical indications and identify the most appropriate treatment for each patient.

Assessment of the Chignon dynamic ankle-foot orthosis using instrumented gait analysis in hemiparetic adults.

OBJECTIVE: In the hemiplegic adult, gait is frequently perturbed by lack of ankle dorsiflexion at toe-off and may prompt prescription of an ankle-foot orthosis (AFO). Our objective was to evaluate the effect on gait of a dynamic AFO (the Chignon orthosis) in comparison with a prefabricated AFO (PAFO). METHOD: Ten chronic hemiplegic patients performed a 10 m gait test and then underwent an instrumented treadmill gait test under three different sets of conditions (without an orthosis, with a PAFO and with a Chignon orthosis). The energy cost was calculated by measuring the oxygen consumption during gait. RESULTS: The patients' free-walking speed was higher with the Chignon orthosis (0.81+/-0.25 ms(-1)) than without it (0.64+/-0.25 ms(-1); p<0.001). The ankle's segmental kinematics were better with the Chignon orthosis than without an orthosis, notably in terms of ankle position at heel strike (-0.8 degrees +/-4.6 versus -7.9 degrees +/-8.3; p=0.009) and ankle dorsiflexion at toe-off (1.7 degrees +/-4.6 versus -5.5 degrees +/-7.2; p=0.006). External mechanical work was lower with both the PAFO (0.61+/-0.2 J kg(-1)m(-1)) and the Chignon orthosis (0.61+/-0.23 J kg(-1)m(-1)), relative to gait without an orthosis (0.73+/-0.25 J kg(-1)m(-1); p=0.003). Total mechanical work was also lower with the PAFO (0.9+/-0.25 J kg(-1)m(-1)) and the Chignon orthosis (0.87+/-0.25 J kg(-1)m(-1)), relative to gait without an orthosis (1.09+/-0.37 J kg(-1)m(-1); p=0.001), whereas the reduction in energy cost with orthosis use was borderline-significant (p=0.06). CONCLUSION: Mechanical work was similarly improved by the two orthoses. The Chignon orthosis improved the free-walking speed and the ankle's segmental kinematics.

Experience with external pump trial prior to implantation for intrathecal baclofen in ambulatory patients with spastic cerebral palsy.

OBJECTIVES: To evaluate effectiveness and safety of intrathecal baclofen administration (ITB) testing with continuous infusion via an external pump before the implantation of an internal one in ambulatory spastic patients with cerebral palsy (CP). PATIENTS AND METHODS: Seven CP patients (3 diplegic, 4 quadriplegic - 18.4+/-7.0 years) with a progressive decrease in walking ability were included. Assessments included: Ashworth's scale, Observational Gait Scale (OGS), and GMFM-66. RESULTS: During the ITB test (45-150 microg/24h), spasticity decreased by more than two points on Ashworth's scale (p<0.001) and walking ability improved (median OGS increased from 7 to 9, p