Krzysztof Banaszkiewicz

Huntington’s disease from the patient, caregiver and physician’s perspectives: three sides of the same coin?

The aim of this study was to identify determinants of functional disability, patient’s quality of life (QoL) and caregivers’ burden in Huntington’s disease (HD). Eighty HD patients participated in the study. Motor and behavioral disturbances as well as cognitive impairment were assessed using motor, behavioral and cognitive parts of the Unified Huntington Disease Rating Scale (UHDRS); Hamilton Depression Rating Scale was used to assess depression. Disability, health-related QoL and the impact of the disease on the caregivers were assessed using the following methods: UHDRS Functional Assessment Score, SF-36 Scale and Caregiver Burden Inventory. Multiple regression analysis showed that motor disturbances, cognitive impairment, apathy and disease duration were the independent predictors of disability. Depression and cognitive disturbances were the determinants of patient’s QoL, while motor disturbances and depression were the predictors of the caregiver burden. Patient’s disability and QoL as well as caregivers’ burden should be taken into consideration while planning treatment strategy and the results of the present study show that the predictors of those treatment targets are different.

The effects of physiotherapy with PNF concept on gait and balance of patients with Huntington's disease - pilot study.

BACKGROUND AND PURPOSE Huntingtons disease (HD) is a neurodegenerative, progressive disorder of the central nervous system which causes significant gait and balance disturbances. This is a pilot study which aims to determine the effects of a physiotherapy programme with use of Proprioceptive Neuromuscular Facilitation (PNF) on gait and balance in HD patients. MATERIAL AND METHODS 30 HD patients aged 21-60 with genetically confirmed diagnosis participated in the study. Participants followed a 3-week-long PNF-based physiotherapy programme. Gait and balance were evaluated twice in each participant: first at baseline and then after the course of physiotherapy. The following methods were used for gait disturbances: Tinetti Gait Assessment Tool, Up and Go Test, Timed Walking Tests for 10m and 20m (TWT10m, TWT20m). Balance was assessed with use of Berg Balance Scale, Pastor Test and Functional Reach Test. RESULTS There was a significant improvement in all measures of balance and gait. CONCLUSION PNF-based physiotherapy is effective and safe in HD patients.

Three-Dimensional Trunk and Lower Limbs Characteristics during Gait in Patients with Huntington's Disease

Objective: A number of studies on gait disturbances have been conducted, however, no clear pattern of gait disorders was described. The aim of the study was to characterize the gait pattern in HD patients by conducting analysis of mean angular movement changes the lower limb joints and trunk (kinematics parameters). Methods: The study group consisted of 30 patients with HD (17 women and 13 men). The reference data include the results of 30 healthy subjects (17 women and 13 men). Registration of gait with the Vicon 250 system was performed using passive markers attached to specific anthropometric points directly on the skin, based on the Golem biomechanical model (Oxford Metrics Ltd.). The research group and the control group were tested once. Results: Statistically significant (p < 0.05) angular changes in gait cycle for HD patients were observed in: insufficient plantar flexion during Loading Response and Pre-swing phases; insufficient flexion of the knee joint during Initial Swing and Mid Swing phases; excessive flexion of the hip in Terminal Stance and Pre-swing phases and over-normative forward inclination of the trunk in all gait phases. It should be noted that the group of patients with HD obtained, for all the mean angular movement changes higher standard deviation. Conclusion: A characteristic gait disorder common to all patients with HD occurring throughout the whole duration of the gait cycle is a pathological anterior tilt of the trunk. The results will significantly contribute to programming physiotherapy for people with HD, aimed at stabilizing the trunk in a position of extension during gait.

Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome

A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis. Tendon xanthomas were not observed in this case. After establishing the diagnosis, treatment with chenodeoxycholic acid and statin was introduced. During the next two years of the follow-up, serum cholestanol and 7α-hydroxycholesterol levels decreased in response to the therapy, but this was not reflected in the patients neurological condition, which was slowly progressing. Treatment effectiveness in cerebrotendinous xanthomatosis is variable, notably better in patients who had started therapy before the injury to the nervous system took place. The present case report points to cerebrotendinous xanthomatosis as a rare cause of spinocerebellar syndrome, which might be treatable if diagnosed in early life.

The influence of motor ability rehabilitation on temporal-spatial parameters of gait in Huntington's disease patients on the basis of a three-dimensional motion analysis system: An experimental trial

OBJECTIVE There is no existing standard, evidence-based, scientific model for motor ability improvement in Huntingtons Disease (HD) patients aimed at maintaining independent gait for as long as possible, or performing activities of daily living, the effectiveness of which would be supported by the results of studies using objective research tools. Under these circumstances, the aim of this study was to analyze the influence of motor ability rehabilitation on the spatial-temporal parameters of gait in HD patients. DESIGN It was an experimental trial. The studied group consisted of 30 patients (17 women and 13 men) with HD. In hospital conditions, the patients participated in the 3-week motor ability l rehabilitation programme tailored to individual needs. The study group was tested using the Vicon 250 three-dimensional gait analysis system before and after the physical exercise programme. RESULTS Walking speed after therapy increased for the left lower limb from 1.06 (SD 0.24) [m/s] to 1.21 (SD 0.23) [m/s], and for the right lower limb from 1.07 (SD 0.25) [m/s] to 1.20 (SD 0.25) [m/s]. The cycle length increased after the applied therapy for the left lower limb from 1.17 (SD 0.20) [m] to 1.23 (SD 0.19) [m]. CONCLUSION The three-week motor ability rehabilitation programme positively influences spatial-temporal gait parameters in HD patients.