J016 Botulinum toxin in the treatment of dystonia in juvenile Huntington Disease (jHD) patients – an attempt to improve the quality of life

<h3>Background</h3> Motor disorder in jHD and other severe hyperkinetic diseases patients, characterize with domination of dystonia, bradykinesia and rigidity over the unvoluntary movements. Therefore, the symptomatic treatment presents a huge challenge, as antichoreic medications may worsen the clinical status increasing the rigidity, and - contrary: antiparkinsonic drugs negatively impact the cognition and psychiatric symptoms. Dystonia and rigidity influence the everyday care, impeding bathing, feeding and rehabilitation. In the below case series, we describe botulinum toxin treatment in relieving symptoms in 4 jHD patients and in patient with advanced neuroakanthocytosis. <h3>Methods</h3> 4 patients with jHD from Institute of Psychiatry and Neurology Enroll-HD database (UHDRS TMS score: WM 65, MS 71, WZ 58, SP 63) after legal representatives agreement undergone botulinum toxin A treatment of the following muscles was based on dystonia pattern and rigidity distribution: WM-600u: upper and lower limbs dystonia, MS-900u: blepharospasm, jaw-closing dystonia, upper and lower limbs dystonia, WZ-1500u: jaw-closing dystonia, upper and lower limbs, SP-1500u: upper and lower limbs and also parotid glands. Moreover, we applied the toxin also to muscles involved in jaw-opening, cervical and upper limb dystonia (1000u) of patient with neuroacanthocytosis (AW-1000u). All patients were followed up 4 weeks after the application. We assessed the UHDRS TMS score and Caregiver QL before and 4 weeks after the treatment. <h3>Results</h3> According to caregivers, in all patients the treatment mildly improved everyday activities: feeding, bathing, wearing, transferring from wheelchair to bed and assisted motion, which was reflected both in improvement in careQL questionnaire scoring (mean Δ+7 pts) and reduction in patient’s TMS dystonia subscores (Respectively: WM Δ-2, MS Δ-3, WZ Δ-3, SP Δ-3, AW Δ-4 pts). <h3>Conclusions</h3> Selective application of botulinum toxin may improve the physical performance of severely affected jHD subjects. This makes basic activities easier and reflects in an improvement of quality of life of both patients and caregivers. Every patient before the treatment needs to be evaluated to establish the individual scheme of the treatment based on dystonia and rigidity distribution.