Choroba Huntingtona — w 20. rocznicę odkrycia genu IT15; patogeneza, diagnostyka i leczenie

Choroba Huntingtona (HD, Huntington’s disease) jest procesem zwyrodnieniowym uwarunkowanym genetycznie i występuje rzadziej niż choroba Alzheimera czy Parkinsona. Z powodu ciężkiego przebiegu, specyficznej sytuacji nosicieli mutacji genowej w genie IT15 z dziedziczeniem autosomalnie dominującym, z których niemal wszyscy zachorują, a także z powodu postępu w jej leczeniu zasługuje na szczególną uwagę. Dodatkowo w 2013 roku przypada 20. rocznica odkrycia genu; jest to także rok zarejestrowania w Polsce pierwszego przebadanego systematycznie leku do objawowego leczenia pląsawicy, jakim jest tetrabenazyna. W Polsce w ostatnich latach obserwuje się poprawę opieki nad chorymi z HD związaną z wejściem naszego kraju w 2007 roku do Europejskiej Sieci Choroby Huntingtona (EHDN, European Huntington’s Disease Network). W artykule przedstawiono najważniejsze informacje dotyczące patogenezy, diagnostyki oraz leczenia HD

Ograniczony wgląd w zaburzenia pamięci u osób z chorobą Huntingtona

Background and purpose Patients suffering from Huntington disease (HD) have been shown to present with poor self-awareness of a variety of symptoms. The study aimed to assess the self-awareness of memory impairment in HD in comparison to advanced Parkinson disease (PD), mild PD and cervical dystonia. Material and methods Self-awareness was tested in 23 patients with HD by comparing patient and caregiver ratings in reference to clinical control groups (25 patients with advanced PD, 21 with mild PD and 20 with cervical dystonia). Self-awareness was tested using the Self Rating Scale of Memory Functions, which was administered to both the patients and the caregivers. Neuropsychological assessment addressed general cognitive status (Mini-Mental State Examination), verbal learning (Auditory Verbal Learning Test, 15-word list) and mood (Montgomery-Asberg Depression Rating Scale). Results Patients with HD significantly underestimated their memory dysfunction. Underestimation of memory deficit correlated with disease duration and disease severity in HD. Conclusions Huntington disease patients underestimate memory dysfunction. These results add to the previous reports on poor insight in HD in other domains and suggest that anosognosia in HD, albeit usually rather mild, may be a generalized phenomenon.Wstęp i cel pracy U pacjentów z chorobą Huntingtona (ChH) stwierdza się zaburzoną samoświadomość wielu objawów. Badanie miało na celu ocenę samoświadomości zaburzeń pamięci u chorych na ChH w porównaniu z chorymi na zaawansowaną chorobę Parkinsona (ChP), ChP z niewielkim nasileniem objawów oraz chorymi na dystonię szyjną. Materiał i metody Samoświadomość zaburzeń pamięci zbadano u 23 chorych na ChH poprzez porównanie ocen pacjentów i opiekunów w odniesieniu do klinicznych grup porównawczych (25 chorych na zaawansowaną ChP, 21 chorych na ChP z niewielkim nasileniem objawów oraz 20 chorych na dystonię szyjną). Samoświadomość zaburzeń pamięci zbadano przy użyciu skali Samooceny funkcjonowania pamięci (Self Rating Scale of Memory Functions), którą wypełniali zarówno pacjenci, jak i opiekunowie. W badaniu neuropsychologicznym oceniano ogólny stan funkcjonowania poznawczego (Mini-Mental State Examination), uczenie się materiału słownego (Auditory Verbal Learning Test, lista 15 słów) oraz nastrój (Montgomery-Asberg Depression Rating Scale). Wyniki Chorzy na ChH nie byli w stanie właściwie ocenić nasilenia zaburzeń pamięci, uważając, że funkcjonuje ona lepiej, niż to było w rzeczywistości. Tendencja ta korelowała z czasem trwania choroby oraz nasileniem jej objawów. Wnioski Chorzy na ChH nie zdają sobie w pełni sprawy z nasilenia zaburzeń pamięci. Uzyskane wyniki wspierają wcześniejsze doniesienia z piśmiennictwa o zaburzonym wglądzie w ChH dotyczącym wielu sfer funkcjonowania i sugerują, że anozognozja w ChH, aczkolwiek zazwyczaj raczej łagodna, może mieć charakter uogólniony

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 Influence of Plantar Short Foot Muscle Exercises on Foot Posture and Fundamental Movement Patterns in Long-Distance Runners, a Non-Randomized, Non-Blinded Clinical Trial.

BACKGROUND:The objective of this study was to evaluate the influence of two kinds of plantar short foot muscles exercise on foot posture and fundamental movement patterns in long-distance runners. DESIGN:A parallel group non-blinded trial with 6-week follow-up. METHODS:Twenty five long-distance runners aged 22-35 years. They were divided into two groups. In group 1 (n = 13) subjects performed the exercise "Vele's Forward Lean" and "Reverse Tandem Gait" and in Group 2 (n = 12) the "Short Foot Exercise." The runners performed the exercises daily for 6 weeks. The Foot Posture Index (FPI-6) and The Functional Movement Screen (FMS) tests were performed twice: at baseline and after 6 weeks of the exercise. RESULTS:A significant improvement was observed in FPI -6 (talar head palpation in Group 1, and inversion/eversion of the calcaneus in Group 2). Also in Group 1 a significant improvement was noted in FMS tests: deep squat, active straight leg raise and in total score. CONCLUSIONS:Short foot muscles strengthening exercises have beneficial effect on functional movement patterns and on foot posture, therefore they should be included as a part of daily training program of runners. TRIAL REGISTRATION:Australian New Zealand Clinical Trials Registry ACTRN12615001200572

Kontrola wzrokowa zwiększa precyzję ułożenia dłoni w chorobie Huntingtona

Background: The study aimed at demonstrating dependence of visual feedback during hand and finger positioning task performance among Huntington’s disease patients in comparison to patients with Parkinson’s disease and cervical dystonia. Material and methods: Eighty-nine patients participated in the study (23 with Huntington’s disease, 25 with Parkinson’s disease with dyskinesias, 21 with Parkinson’s disease without dyskinesias, and 20 with cervical dystonia), scoring ≥20 points on Mini-Mental State Examination in order to assure comprehension of task instructions. Neurological examination comprised of the motor section from the Unified Huntington’s Disease Rating Scale for Huntington’s disease, the Unified Parkinson’s Disease Rating Scale Part II–IV for Parkinson’s disease and the Toronto Western Spasmodic Torticollis Rating Scale for cervical dystonia. In order to compare hand position accuracy under visually controlled and blindfolded conditions, the patient imitated each of the 10 examiner’s hand postures twice, once under the visual control condition and once with no visual feedback provided. Results: Huntington’s disease patients imitated examiner’s hand positions less accurately under blindfolded condition in comparison to Parkinson’s disease without dyskinesias and cervical dystonia participants. Under visually controlled condition there were no significant inter-group differences. Conclusions: Huntington’s disease patients exhibit higher dependence on visual feedback while performing motor tasks than Parkinson’s disease and cervical dystonia patients. Possible improvement of movement precision in Huntington’s disease with the use of visual cues could be potentially useful in the patients’ rehabilitation.Wprowadzenie: Badanie miało na celu ukazanie wpływu wzrokowego sprzężenia zwrotnego na poziom wykonania prób ułożenia dłoni oraz palców wśród pacjentów z chorobą Huntingtona w porównaniu z pacjentami z chorobą Parkinsona i dystonią szyjną. Materiał i metody: W badaniu wzięło udział 89 pacjentów (23 z chorobą Huntingtona, 25 z chorobą Parkinsona i dyskinezami, 21 z chorobą Parkinsona bez dyskinez i 20 z dystonią szyjną), z wynikiem ≥20 punktów w MiniMental State Examination, co zapewniało rozumienie instrukcji testowych. Badanie neurologiczne obejmowało podskale ruchowe z Ujednoliconej Skali Oceny Choroby Huntingtona, Ujednoliconej Skali Oceny Choroby Parkinsona – części II–IV oraz Skalę Oceny Dystonii Szyjnej z Toronto. W celu porównania precyzji ułożenia ręki w warunkach pod kontrolą wzrokową oraz bez niej pacjent odtwarzał dwukrotnie 10 pozycji prezentowanych przez badającego – jeden raz w każdym z powyższych warunków. Wyniki: Pacjenci z chorobą Huntingtona wykazali się mniejszą precyzją w próbach naśladowania ułożenia ręki badającego w warunkach bez kontroli wzrokowej w porównaniu z uczestnikami z chorobą Parkinsona bez dyskinez i dystonią szyjną. W przypadku prób z kontrolą wzrokową nie wystąpiły istotne różnice między grupami. Wnioski: Pacjenci z chorobą Huntingtona wykazują większą zależność od wzrokowego sprzężenia zwrotnego przy wykonywaniu zadań ruchowych niż pacjenci z chorobą Parkinsona i dystonią szyjną. Możliwość uzyskania poprawy precyzji ruchów po dostarczeniu wskazówek wzrokowych u pacjentów z chorobą Huntingtona można wykorzystać w rehabilitacji tej grupy chorych

Visual control improves the accuracy of hand positioning in Huntington’s disease

Background: The study aimed at demonstrating dependence of visual feedback during hand and finger positioning task performance among Huntington’s disease patients in comparison to patients with Parkinson’s disease and cervical dystonia. Material and methods: Eighty-nine patients participated in the study (23 with Huntington’s disease, 25 with Parkinson’s disease with dyskinesias, 21 with Parkinson’s disease without dyskinesias, and 20 with cervical dystonia), scoring ≥20 points on Mini-Mental State Examination in order to assure comprehension of task instructions. Neurological examination comprised of the motor section from the Unified Huntington’s Disease Rating Scale for Huntington’s disease, the Unified Parkinson’s Disease Rating Scale Part II–IV for Parkinson’s disease and the Toronto Western Spasmodic Torticollis Rating Scale for cervical dystonia. In order to compare hand position accuracy under visually controlled and blindfolded conditions, the patient imitated each of the 10 examiner’s hand postures twice, once under the visual control condition and once with no visual feedback provided. Results: Huntington’s disease patients imitated examiner’s hand positions less accurately under blindfolded condition in comparison to Parkinson’s disease without dyskinesias and cervical dystonia participants. Under visually controlled condition there were no significant inter-group differences. Conclusions: Huntington’s disease patients exhibit higher dependence on visual feedback while performing motor tasks than Parkinson’s disease and cervical dystonia patients. Possible improvement of movement precision in Huntington’s disease with the use of visual cues could be potentially useful in the patients’ rehabilitation

Consort diagram.

<p>Consort diagram.</p

The FPI-6 test at baseline and after 6 weeks of exercising.

<p>The FPI-6 test at baseline and after 6 weeks of exercising.</p

The influence of cervical spine rehabilitation on bioelectrical activity (sEMG) of cervical and masticatory system muscles.

BackgroundCoexistence of temporomandibular joint discomfort along with cervical spine disorders is quite common, and is associated with many limitations and adverse symptoms for the patient. Both diagnostics and treatment of these ailments are difficult, and in many cases, the effects of therapy are not satisfactory. This study assessed the impact of a 3-week neck-only rehabilitation programme without direct intervention in the craniofacial area on the bioelectric activity of both the cervical spine and muscles in the craniofacial area among patients with idiopathic neck pain who do not report TMJ pain.DesignA parallel group trial with follow-up; Setting: Rehabilitation Clinic.MethodsTwenty five patients experiencing idiopathic neck pain underwent the 3-week rehabilitation programme. Thirty five age-matched subjects with no cervical spine and temporomandibular joint (TMJ) dysfunctions were control group. At baseline and after 3 weeks the cervical and craniofacial area muscles' bioelectrical activity (sEMG) was evaluated.ResultsIn the experimental group during cervical flexion, a significant decrease of sEMG amplitude was noted in the right (mean 25.1 μV; 95% CI: 21.5-28.6 vs mean 16.8 μV; 95% CI: 13.8-19.7) and left (mean 25.9 μV; 95% CI: 21.7-30.0 vs mean 17.2 μV; 95% CI: 13.6-20.7) Sternocleidomastoid as well as a significant increase in sEMG amplitude of the right (mean 11.1 μV; 95% CI: 7.9-14.2 vs mean 15.7 μV; 95% CI: 12.1-19.2) and left (mean 15.3 μV; 95% CI: 11.9-18.6 vs mean 20.2 μV; 95% CI: 15.7-24.2) Upper Trapezius muscles. In the experimental group, after therapy right and left Sternocleidomastoid, Temporalis Anterior and Masseter muscles presented lower fatigue levels.ConclusionsThree weeks of rehabilitation without any therapeutic intervention in temporomandibular joint significantly decreased the bioelectrical activity of the neck and craniofacial muscles while improving the muscle pattern of coactivation in participants with idiopathic neck pain who do not report temporomandibular joint pain. These observations could be helpful in the physiotherapeutic treatment of neck and craniofacial area dysfunctions.Trial registrationID ISRCTN14511735-retrospectively registered